List of variants reported as likely pathogenic for pigmented paravenous retinochoroidal atrophy by Genome-Nilou Lab

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	rs62636264	0.00007
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	rs764256655	0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	rs769909288	0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	rs62636276	0.00001
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	rs62645754
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)	rs1664290387
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	rs866822473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)	rs963201816
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)	rs751935649
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)	rs1664671663
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	rs62635659
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)	rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)	rs62635649
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158

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