List of variants reported as pathogenic for pigmented paravenous retinochoroidal atrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	rs137853137	0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
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.2688T>A (p.Cys896Ter)	rs62636273	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.3307G>A (p.Gly1103Arg)	rs62636275	0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)	rs763324776	0.00003
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	rs114342808	0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	rs62635656	0.00001
NM_201253.3(CRB1):c.1431del (p.Ser478fs)	rs1553260321
NM_201253.3(CRB1):c.1660del (p.Val554fs)	rs1664313783
NM_201253.3(CRB1):c.2129-2A>G
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	rs62645747
NM_201253.3(CRB1):c.3144del (p.Ser1049fs)	rs1275965097
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)	rs2125500431
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)	rs2125500491
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)	rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.4005+1G>A	rs890453675
NM_201253.3(CRB1):c.4006-1G>T	rs752804194
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)	rs1658688864
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752

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