ClinVar Miner

List of variants in gene CAPRIN1 reported by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005898.5(CAPRIN1):c.1122+19G>A rs4755360 0.99168
NM_005898.5(CAPRIN1):c.1271C>T (p.Pro424Leu) rs750949911 0.00001
NM_005898.5(CAPRIN1):c.1123-7C>G
NM_005898.5(CAPRIN1):c.1318_1319delinsTT (p.Glu440Leu)
NM_005898.5(CAPRIN1):c.1457C>T (p.Ala486Val) rs2496097265
NM_005898.5(CAPRIN1):c.1562A>G (p.Asn521Ser) rs2496103127
NM_005898.5(CAPRIN1):c.1582C>A (p.Pro528Thr)
NM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr) rs2496103618
NM_005898.5(CAPRIN1):c.170T>C (p.Ile57Thr)
NM_005898.5(CAPRIN1):c.1795C>T (p.Arg599Cys)
NM_005898.5(CAPRIN1):c.1834C>G (p.Arg612Gly)
NM_005898.5(CAPRIN1):c.1919G>A (p.Arg640His) rs1590749653
NM_005898.5(CAPRIN1):c.1967T>G (p.Phe656Cys)
NM_005898.5(CAPRIN1):c.230A>G (p.Asp77Gly) rs2496026554
NM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter)
NM_005898.5(CAPRIN1):c.301del (p.Glu101fs) rs2496027422
NM_005898.5(CAPRIN1):c.325G>T (p.Ala109Ser) rs2496027496
NM_005898.5(CAPRIN1):c.446T>G (p.Val149Gly)
NM_005898.5(CAPRIN1):c.567C>G (p.Phe189Leu) rs2496042330
NM_005898.5(CAPRIN1):c.587A>C (p.Glu196Ala)
NM_005898.5(CAPRIN1):c.688+5G>A
NM_005898.5(CAPRIN1):c.799G>T (p.Ala267Ser)
NM_005898.5(CAPRIN1):c.808G>T (p.Asp270Tyr)
NM_005898.5(CAPRIN1):c.841G>A (p.Glu281Lys)
NM_005898.5(CAPRIN1):c.890G>C (p.Arg297Thr)
NM_005898.5(CAPRIN1):c.944A>T (p.Glu315Val) rs2496068164
NM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter) rs2496078103

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