ClinVar Miner

List of variants in gene CAPN3 reported as likely pathogenic by Invitae

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Total variants: 15
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HGVS dbSNP
NC_000015.10:g.(?_42409283)_(42410015_?)del
NM_000070.2(CAPN3):c.1115+2T>A rs1057524468
NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.2(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.2(CAPN3):c.2263+1G>A rs886044475
NM_000070.2(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.2(CAPN3):c.632+1delG
NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.2(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000070.2(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995

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