List of variants in gene CRB1 reported as likely pathogenic for not provided

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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: 23

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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.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.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.2179T>C (p.Phe727Leu)	rs758657548	0.00002
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)	rs786205450
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)	rs1664292210
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)	rs752212470
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)	rs768905244
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)	rs62636267
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)	rs2125483925
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs)	rs786205610
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	rs1085307972
NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly)	rs62635658
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)	rs1571544334
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)	rs2125500431
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser)	rs62636291
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)	rs1450635782
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)	rs778731851

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