ClinVar Miner

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

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Gene type:
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Total variants: 85
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HGVS dbSNP
NG_008660.1:g.66727_66728ins5 rs1555423021
NM_000070.2(CAPN3):c.1030-1G>A rs1555421263
NM_000070.2(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.2(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.2(CAPN3):c.1115+1G>A rs1555421293
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1198delT (p.Ser400Profs) rs1555421842
NM_000070.2(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.2(CAPN3):c.1276_1277delCT (p.Leu426Serfs) rs1555421854
NM_000070.2(CAPN3):c.1298_1299delTG (p.Val433Glufs) rs1293496023
NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.2(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.2(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.2(CAPN3):c.1401_1403delGGA (p.Glu467del) rs746075428
NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1642delC (p.Arg548Alafs) rs1555422293
NM_000070.2(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.2(CAPN3):c.1690_1693dup (p.Gln565Profs) rs1555422298
NM_000070.2(CAPN3):c.1711delC (p.Leu571Serfs) rs1334369407
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1743_1744delTG (p.Glu582Glyfs) rs886042573
NM_000070.2(CAPN3):c.1801-1G>A rs886043752
NM_000070.2(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.2(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.2(CAPN3):c.1882delA (p.Thr628Glnfs) rs1555422847
NM_000070.2(CAPN3):c.1914+2T>C rs1555422856
NM_000070.2(CAPN3):c.1944_1945delTG (p.Ser648Argfs) rs1555422954
NM_000070.2(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.2(CAPN3):c.2050+1delG rs1555423027
NM_000070.2(CAPN3):c.2051-1G>C rs886042108
NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.2(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.2(CAPN3):c.2115+1G>A rs766917640
NM_000070.2(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.2(CAPN3):c.212delA (p.Lys71Argfs) rs1555417321
NM_000070.2(CAPN3):c.2184+2T>C rs1555423146
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) rs587780289
NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) rs775130589
NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) rs886044527
NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.2(CAPN3):c.2337dup (p.Asp780Terfs) rs1447774727
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.2380+1G>T rs1555423222
NM_000070.2(CAPN3):c.2381-2A>G rs863224962
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2440-1G>A rs886044052
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.369delA (p.Gly124Glufs) rs1555420083
NM_000070.2(CAPN3):c.380-8_395del24 rs1555420302
NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) rs746935735
NM_000070.2(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.2(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) rs398123149
NM_000070.2(CAPN3):c.59delC (p.Pro20Glnfs) rs1555417271
NM_000070.2(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557
NM_000070.2(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) rs776059672
NM_000070.2(CAPN3):c.741_751del11 (p.Met248Hisfs) rs1555420647
NM_000070.2(CAPN3):c.802-9G>A rs761211705
NM_000070.2(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547

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