List of variants in gene CRB1 reported as pathogenic for pigmented paravenous retinochoroidal atrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	rs137853138	0.00106
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.1841G>T (p.Gly614Val)	rs763111500	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	rs757740068	0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	rs760544654	0.00002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	rs114342808	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	rs62635656	0.00001
NM_201253.3(CRB1):c.653-1G>T	rs760287363	0.00001
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)	rs1660515780
NM_201253.3(CRB1):c.1431del (p.Ser478fs)	rs1553260321
NM_201253.3(CRB1):c.1660del (p.Val554fs)	rs1664313783
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)	rs1664325377
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.3014A>T (p.Asp1005Val)	rs369184026
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.3451G>T (p.Gly1151Ter)	rs1558138741
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)	rs1571557864
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	rs2125506459
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)	rs1665282478
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.4142C>T (p.Pro1381Leu)	rs1667264651
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
NM_201253.3(CRB1):c.652+1G>A	rs2125304900
NM_201253.3(CRB1):c.699T>A (p.Cys233Ter)	rs1659643864

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