Table 1 Carrier frequency and estimated incidence of RPE65 gene in East Asians and Koreans in gnomAD and KRGDB

All East Asians (n = 10,919)

2015 ACMG/AMP (PV/LPV)

9

11

0.10 (0.05–0.18)

1/3,941,308 (1/1,230,463–1/15,809,714)

ClinVar (PV/LPV)

7

9

0.08 (0.04–0.16)

1/5,887,633 (1/1,633,796–1/28,158,383)

HGMD (DM)

13

135

1.24 (1.04–1.46)

1/26,167 (1/18,688–1/37,197)

 gnomAD East Asian exomes (n = 9,197)

 2015 ACMG/AMP (PV/LPV)

8

10

0.11 (0.05–0.20)

1/3,383,392 (1/1,000,000–1/14,736,167)

 ClinVar (PV/LPV)

6

8

0.09 (0.04–0.17)

1/5,286,551 (1/1,361,724–1/28,368,744)

 HGMD (DM)

12

131

1.42 (1.19–1.69)

1/19,716 (1/14,005 − 1/28,199)

All Koreans (n = 3,631)

2015 ACMG/AMP (PV/LPV)

2

2

0.06 (0.01–0.20)

1/13,184,161 (1/1,010,380–1/899,100,675)

ClinVar (PV/LPV)

1

1

0.03 (0–0.15)

1/52,736,644 (1/1,698,737–1/81,632,653,061)

HGMD (DM)

3

7

0.19 (0.08–0.40)

1/1,076,258 (1/253,537–1/6,659,729)

 gnomAD Korean exomes (n = 1,909)

 2015 ACMG/AMP (PV/LPV)

1

1

0.05 (0–0.29)

1/14,577,124 (1/469,581–1/22,612,923,286)

 ClinVar (PV/LPV)

0

0

0 (0–0.19)

NA (1/1,108,033 - NA)

 HGMD (DM)

2

3

0.16 (0.03–0.46)

1/1,619,680 (1/189,613–1/38,103,948)

 KRGDB (n = 1,722)

 2015 ACMG/AMP (PV/LPV)

1

1

0.06 (0–0.32)

1/11,861,136 (1/382,077 − 1/18,510,805,683)

 ClinVar (PV/LPV)

1

1

0.06 (0–0.32)

1/11,861,136 (1/382,077 − 1/18,510,805,683)

 HGMD (DM)

2

4

0.23 (0.06–0.59)

1/741,321 (1/113,100–1/9,982,805)