ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
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.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs) rs80338804 0.00009
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.499-1G>A rs863224964 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 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.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 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.1800+2T>C rs748194118 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 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.1084C>T (p.Gln362Ter) rs965032792 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 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.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439 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.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.1A>G (p.Met1Val) rs1566965796 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.2184G>A (p.Gln728=) rs886043220 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.257C>T (p.Ser86Phe) rs121434546 0.00001
NM_000070.3(CAPN3):c.2del (p.Met1fs) rs1566965806 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 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.743T>G (p.Met248Arg) rs777829958 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NC_000015.10:g.(?_42359796)_(42360124_?)del
NC_000015.10:g.(?_42384473)_(42390106_?)del
NC_000015.10:g.(?_42384473)_(42392732_?)del
NC_000015.10:g.(?_42384473)_(42394351_?)del
NC_000015.10:g.(?_42394246)_(42394351_?)del
NC_000015.10:g.(?_42396790)_(42404849_?)del
NC_000015.9:g.(?_42650583)_(42687745_?)del
NC_000015.9:g.(?_42651994)_(42695985_?)del
NC_000015.9:g.(?_42652004)_(42703563_?)del
NC_000015.9:g.(?_42676661)_(42684940_?)del
NC_000015.9:g.(?_42676661)_(42686559_?)del
NC_000015.9:g.(?_42676671)_(42689085_?)del
NC_000015.9:g.(?_42686444)_(42697047_?)del
NC_000015.9:g.(?_42691680)_(42703981_?)del
NC_000015.9:g.(?_42694952)_(42698151_?)del
NC_000015.9:g.(?_42698114)_(42703981_?)del
NC_000015.9:g.(?_42701491)_(42703981_?)del
NC_000015.9:g.(?_42702616)_(42702874_?)del
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
NM_000070.3(CAPN3):c.1002del (p.His334fs)
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
NM_000070.3(CAPN3):c.100del (p.Ala34fs) rs2052593499
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs) rs2141176996
NM_000070.3(CAPN3):c.1029+1G>A rs2141177054
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) rs267606703
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter) rs1595828703
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.1120_1171del (p.Lys374fs)
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1194-2A>G rs2053804014
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
NM_000070.3(CAPN3):c.1455del (p.Met485fs) rs2053876698
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter) rs2141199686
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
NM_000070.3(CAPN3):c.1485del (p.Ala497fs) rs1595837172
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg) rs761637940
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs) rs2141199970
NM_000070.3(CAPN3):c.1524+1G>A rs1275289254
NM_000070.3(CAPN3):c.1524+1G>C
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1536+1G>T
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter) rs2053910936
NM_000070.3(CAPN3):c.1576del (p.Leu526fs) rs1595838545
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs) rs2141202919
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.1681T>C (p.Tyr561His)
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs) rs2141203435
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1782+1072G>C rs2053974373
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs) rs2141210355
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs) rs2141216768
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
NM_000070.3(CAPN3):c.1933del (p.Asp645fs) rs1595845459
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
NM_000070.3(CAPN3):c.193del (p.His65fs) rs2141102601
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC (p.Lys659fs)
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer) rs2141219910
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
NM_000070.3(CAPN3):c.1985del (p.Ala662fs) rs2141219970
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
NM_000070.3(CAPN3):c.1992+1G>A
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter) rs2141221307
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs) rs2141221357
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs) rs2054150380
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2050+1G>C rs768374736
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2050+1dup rs2141221533
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs) rs1555423046
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs) rs1595846922
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His) rs886044427
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
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.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.219del (p.Leu74fs) rs2141102673
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer) rs2054185246
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs) rs2141224217
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=) rs148851444
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
NM_000070.3(CAPN3):c.2230del (p.Ser744fs) rs2054186817
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) rs768090444
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
NM_000070.3(CAPN3):c.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2301del (p.Met768fs) rs2141225604
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs) rs1457010016
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.2380+1G>A rs1555423222
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs) rs763649825
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs) rs2141102811
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter) rs1476836379
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) rs758058910
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter) rs1801505
NM_000070.3(CAPN3):c.321_330del (p.Glu107fs)
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.346del (p.Ala116fs)
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp) rs2053335268
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys) rs886043437
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
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.509dup (p.Tyr170Ter) rs1595821204
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) rs1555420475
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter) rs2053442769
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.562del (p.Gln188fs) rs1566975090
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.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly) rs763719290
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.616del (p.Glu206fs) rs2053446296
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter) rs138846390
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
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.727_730delinsAT (p.Asp243fs) rs1555420642
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
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.746dup (p.Tyr249Ter)
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter) rs2053484604
NM_000070.3(CAPN3):c.796del (p.Ile266fs) rs2053485642
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000070.3(CAPN3):c.801+2T>G
NM_000070.3(CAPN3):c.806del (p.Gly269fs) rs2053509916
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter) rs2141170517
NM_000070.3(CAPN3):c.946-1G>A rs80338801
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.946-2A>G rs1595826673
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter) rs750443041
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995

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