ClinVar Miner

List of variants in gene CAPN3 reported by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1009T>C (p.Ser337Pro) rs2141176978
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu) rs863224956
NM_000070.3(CAPN3):c.1447G>A (p.Ala483Thr) rs2141199638
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) rs751104396
NM_000070.3(CAPN3):c.1633del (p.Gln545fs) rs2141203052
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys) rs1432632972
NM_000070.3(CAPN3):c.689del (p.Asp230fs) rs2141167797
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355
NM_000070.3(CAPN3):c.795_800del (p.Ile266_Asp267del) rs869312852
NM_000070.3(CAPN3):c.946-2A>G rs1595826673

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