ClinVar Miner

List of variants in gene CRB1 reported as pathogenic for Retinitis pigmentosa

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Total variants: 22
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HGVS dbSNP gnomAD frequency
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.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.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.1171+2T>G rs1660519681
NM_201253.3(CRB1):c.1459dup (p.Ser487fs) rs863223342
NM_201253.3(CRB1):c.1483del (p.Trp495fs) rs1664301074
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) rs1553262957
NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser) rs771257822
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) rs1571848659
NM_201253.3(CRB1):c.54_55insT (p.Leu19fs) rs1654721399
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.687G>A (p.Trp229Ter) rs1659642467
NM_201253.3(CRB1):c.733del (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.803_806del (p.Ser268fs) rs1659651471

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