ClinVar Miner

List of variants in gene CRB1 reported by Molecular Medicine, University of Leeds

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr) rs1201356843
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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