|
Total no. of carrier individuals
|
52
|
26
|
3.84
|
19.9
|
31.9
|
1
|
Cystic fibrosis - CFTR (219700)
|
9
|
4.5
|
22.22
|
2.4
|
8.3
|
2
|
Deafness - SCL26A4 (274600)
|
5
|
2.5
|
40.0
|
0.78
|
5
|
3
|
Deafness - GJB2 (220290)
|
3
|
1.5
|
66.67
|
0.5
|
4.3
|
4
|
Deafness - TMPRSS3 (601072)
|
3
|
1.5
|
66.67
|
0.5
|
4.3
|
5
|
GSD type II - GAA (232300)
|
3
|
1.5
|
66.67
|
0.5
|
4.3
|
6
|
Methyl malonicaciduria mut A – MMAA (251100)
|
2
|
1
|
100
|
0.27
|
3.6
|
7
|
AR polycystic kidney – PKHD1 (263200)
|
2
|
1
|
100
|
0.27
|
3.6
|
8
|
Galactosemia - GALT (230400)
|
2
|
1
|
100
|
0.27
|
3.6
|
9
|
Smith Lemli Opitz syndrome – DHCR7 (270400)
|
2
|
1
|
100
|
0.27
|
3.6
|
10
|
Albinism type II - OCA2 (203200)
|
2
|
1
|
100
|
0.27
|
3.6
|
11
|
Megalencephalic leukoencephalopathy with cysts -MLC1 (604004)
|
2
|
1
|
100
|
0.27
|
3.6
|
12
|
Gaucher disease - GBA (230800)
|
2
|
1
|
100
|
0.27
|
3.6
|
13
|
Phenylketonuria – PAH (261600)
|
2
|
1
|
100
|
0.27
|
3.6
|
14
|
Epidermolysis bullosa (Junctional) -LAMC2(226,700, 226,650)
|
2
|
1
|
100
|
0.27
|
3.6
|
15
|
Niemann Pick disease type C1 – NPC1 (257220)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
16
|
Deafness - TMC1 (600974)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
17
|
Biotinidase deficiency - BTD (253260)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
18
|
Medium chain acyl CoA deficiency -ACADM (201450)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
19
|
Limb girdle muscle dystrophy type 2A -CAPN3 (253600)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
20
|
Congenital adrenal hyperplasia -CYP21A2(201910)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
21
|
Primary hyperoxaluria type 1 - AGXT (259900)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
22
|
Argininosuccinic aciduria - ASL (207900)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
23
|
Canavan disease - ASPA (271900)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
24
|
Glutaric aciduria type 1 – GCDH (231670)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
25
|
Krabbe disease - GALC (245200)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
26
|
Congenital ichthyosis - TGM1 (242300)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
27
|
Metachromatic leukodystrophy – ARSA (250100)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
28
|
Zellweger syndrome – PEX1 (214100)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
29
|
Epidermolysis bullosa dystrophica – COL7A1 (226600)
|
1
|
0.5
|
200
|
0.088
|
2.77
|
30
|
Very long chain acyl CoA dehydrogenase deficiency - ACADVL (201475)
|
1
|
0.5
|
200
|
0.088
|
2.77
|