ClinVar Miner

List of variants in gene CAPN3 reported as likely pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp) rs781723572 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu) rs546820887 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2115+1G>A rs766917640 0.00001
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=) rs886043220 0.00001
NM_000070.3(CAPN3):c.2185-16A>G rs1339644598 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu) rs1162942997 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met) rs901764287 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn) rs767477904 0.00001
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala) rs1159580160 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703 0.00001
NM_000070.3(CAPN3):c.946-29del rs1595826640 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
GRCh37/hg19 15q15.1(chr15:42681074-42684971)x1
NC_000015.10:g.(?_42409283)_(42410015_?)del
NC_000015.9:g.(?_42695919)_(42695985_?)dup
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1030-1G>T
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1115+1G>A rs1555421293
NM_000070.3(CAPN3):c.1115+2T>A rs1057524468
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1119G>A (p.Trp373Ter)
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
NM_000070.3(CAPN3):c.1193+1G>A
NM_000070.3(CAPN3):c.1193+1G>T
NM_000070.3(CAPN3):c.1193+1del
NM_000070.3(CAPN3):c.1194-2del rs2141193533
NM_000070.3(CAPN3):c.1197del (p.Met399fs)
NM_000070.3(CAPN3):c.1198del (p.Ser400fs) rs1555421842
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe) rs371784007
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.3(CAPN3):c.1247del (p.Leu416fs)
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs) rs1555421854
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
NM_000070.3(CAPN3):c.1354+1G>A
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His) rs727503838
NM_000070.3(CAPN3):c.1354G>T (p.Asp452Tyr) rs727503838
NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)
NM_000070.3(CAPN3):c.1420_1433delinsC (p.Ser474fs)
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr) rs1555422111
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs) rs2141199752
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524+1G>A rs1275289254
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1525-1G>T rs2053889963
NM_000070.3(CAPN3):c.1525-2A>G
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe) rs1409503203
NM_000070.3(CAPN3):c.1536+3A>G
NM_000070.3(CAPN3):c.1536G>A (p.Glu512=)
NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)
NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)
NM_000070.3(CAPN3):c.1642del (p.Arg548fs) rs1555422293
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs) rs1555422298
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1711del (p.Leu571fs) rs1334369407
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)
NM_000070.3(CAPN3):c.1782+2T>C rs754930571
NM_000070.3(CAPN3):c.1783-5_1784del
NM_000070.3(CAPN3):c.1807_1808dup (p.Phe604fs)
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu) rs200759807
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.3(CAPN3):c.1882del (p.Thr628fs) rs1555422847
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter) rs1595844413
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.1915-2A>C
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs) rs1555422954
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter) rs777636094
NM_000070.3(CAPN3):c.1954C>T (p.Gln652Ter)
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.1993-2A>G
NM_000070.3(CAPN3):c.1996_1997del (p.Met666fs)
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>A
NM_000070.3(CAPN3):c.2051-1G>C rs886042108
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter) rs2054157050
NM_000070.3(CAPN3):c.2092_2095dup (p.Ser699delinsThrTer)
NM_000070.3(CAPN3):c.2112_2115+2del
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.2115+2T>C rs1555423060
NM_000070.3(CAPN3):c.2116-1G>A
NM_000070.3(CAPN3):c.2116-1G>C
NM_000070.3(CAPN3):c.2117C>A (p.Thr706Lys)
NM_000070.3(CAPN3):c.212del (p.Lys71fs) rs1555417321
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter) rs774048414
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter) rs2054179951
NM_000070.3(CAPN3):c.2184+2T>C rs1555423146
NM_000070.3(CAPN3):c.2184+2T>G
NM_000070.3(CAPN3):c.219del (p.Leu74fs) rs2141102673
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs) rs2141224217
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2209G>A (p.Asp737Asn)
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2230del (p.Ser744fs) rs2054186817
NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr) rs886044480
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
NM_000070.3(CAPN3):c.225T>A (p.Tyr75Ter)
NM_000070.3(CAPN3):c.2263G>A (p.Gly755Arg)
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro) rs80338802
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
NM_000070.3(CAPN3):c.2308dup (p.Tyr770fs)
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys) rs2141225644
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val) rs752397587
NM_000070.3(CAPN3):c.2319dup (p.His774fs)
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.233del (p.Pro78fs)
NM_000070.3(CAPN3):c.2340_2341del (p.Asp780fs)
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter) rs2054206966
NM_000070.3(CAPN3):c.2381-2A>C
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2439+1G>T
NM_000070.3(CAPN3):c.2440-1G>C rs886044052
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)
NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
NM_000070.3(CAPN3):c.2456_*4del (p.Met819_Ter822delinsXaa)
NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)
NM_000070.3(CAPN3):c.290dup (p.Val98fs) rs1595794433
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter) rs2053335168
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly) rs1566973583
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn) rs765935351
NM_000070.3(CAPN3):c.369del (p.Gly124fs) rs1555420083
NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)
NM_000070.3(CAPN3):c.379+1G>A
NM_000070.3(CAPN3):c.379+3A>T rs1164215001
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.506G>A (p.Arg169His)
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter) rs2053442769
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln) rs2141164715
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys) rs2141164830
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe) rs886043143
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.616del (p.Glu206fs) rs2053446296
NM_000070.3(CAPN3):c.632+1del rs1566975163
NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)
NM_000070.3(CAPN3):c.633-1G>A
NM_000070.3(CAPN3):c.633-2A>C
NM_000070.3(CAPN3):c.633-2A>G
NM_000070.3(CAPN3):c.633G>T (p.Lys211Asn)
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp) rs761430243
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro) rs2053478068
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser) rs1432632972
NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)
NM_000070.3(CAPN3):c.668A>C (p.Asn223Thr)
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) rs1555420642
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000070.3(CAPN3):c.754A>G (p.Met252Val) rs2053483911
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter) rs2053484604
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp) rs886042588
NM_000070.3(CAPN3):c.802-1G>A
NM_000070.3(CAPN3):c.802-2A>G rs2141170197
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.848_849dup (p.Gly284fs)
NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)
NM_000070.3(CAPN3):c.945+1G>A
NM_000070.3(CAPN3):c.945+1G>T rs1375420170
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.949dup (p.Ile317fs)
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter) rs2053589887
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3:g.(42408325_42409302)_(42412214_?)del

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