ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NC_000015.9:g.(?_42651698)_(42704515_?)del
NC_000015.9:g.(?_42651994)_(42652322_?)del
NC_000015.9:g.(?_42651994)_(42691860_?)del
NC_000015.9:g.(?_42651994)_(42703981_?)del
NC_000015.9:g.(?_42682131)_(42703991_?)del
NC_000015.9:g.(?_42686444)_(42686549_?)del
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.223dup rs398123146
NM_000070.2(CAPN3):c.319G>T rs1801505
NM_000070.2(CAPN3):c.439C>T rs878854364
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) rs267606703
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000070.3(CAPN3):c.1296_1297TG[1] (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1373del (p.Pro458fs) rs886043705
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1524+1G>A rs1275289254
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1524+2T>C rs1555422145
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter) rs752848213
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1863dup (p.Glu622fs) rs886044417
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960
NM_000070.3(CAPN3):c.1957C>T (p.Gln653Ter) rs886042927
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1992+2T>A
NM_000070.3(CAPN3):c.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs) rs1555423046
NM_000070.3(CAPN3):c.2115+2T>C rs1555423060
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2205_2206CA[1] (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) rs768090444
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2251_2254dup (p.Asn752fs) rs398123147
NM_000070.3(CAPN3):c.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs) rs80338804
NM_000070.3(CAPN3):c.2363delinsTCT (p.Arg788fs) rs1555423219
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.255_256CT[2] (p.Leu87fs) rs763649825
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe) rs121434546
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) rs758058910
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs) rs1555420075
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.499-1G>A rs863224964
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) rs1555420475
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.639dup (p.Gly214fs) rs886043222
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter) rs776059672
NM_000070.3(CAPN3):c.720dup (p.Ile241fs) rs1555420639
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) rs1555420642
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.946-1G>A rs80338801
NM_000070.3(CAPN3):c.946-2A>G
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter) rs750443041

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