ClinVar Miner

List of variants in gene CAPN3 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
NM_000070.2:c.2035_2036ins5 rs1555423021
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly) rs1555421271
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1115+1G>A rs1555421293
NM_000070.3(CAPN3):c.1115+2T>A rs1057524468
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1198del (p.Ser400fs) rs1555421842
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter) rs1555421847
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs) rs1555421854
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.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
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.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1395_1397GGA[2] (p.Glu467del) rs746075428
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.1466G>A (p.Arg489Gln) rs147764579
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
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.1636C>T (p.Arg546Cys) rs372438001
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.1711del (p.Leu571fs) rs1334369407
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.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter) rs1555422839
NM_000070.3(CAPN3):c.1882del (p.Thr628fs) rs1555422847
NM_000070.3(CAPN3):c.1914+2T>C rs1555422856
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
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.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2051-1G>C rs886042108
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2115+1G>A rs766917640
NM_000070.3(CAPN3):c.2115+1_2115+2dup rs760919949
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.212del (p.Lys71fs) rs1555417321
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
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.2184+2T>C rs1555423146
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.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2255_2257ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
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.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.2381-1G>A rs786205491
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.2440-2A>G rs769688710
NM_000070.3(CAPN3):c.2440-3C>G rs761757153
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter) rs786205490
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.369del (p.Gly124fs) rs1555420083
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.632+1del rs1566975163
NM_000070.3(CAPN3):c.632+5G>A rs1555420508
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
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.795_800del (p.Ile266_Asp267del) rs869312852
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.