ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) rs1482942636 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227

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