ClinVar Miner

List of variants in gene CRB1 reported as likely pathogenic by Blueprint Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter) rs1426006136 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer) rs1658656722
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val) rs1664643556
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2676+1G>T rs1664686689
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter) rs1665100409
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer) rs1665102146
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914

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