ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 12 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 7
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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.1438T>C (p.Cys480Arg) rs62636264 0.00006
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter) rs767359805
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602

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