ClinVar Miner

List of variants in gene CAPN3 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NG_008660.1:g.66727_66728ins5 rs1555423021
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1030-1G>A rs1555421263
NM_000070.2(CAPN3):c.1043delG (p.Gly348Valfs) rs781013226
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.1070G>A (p.Arg357Gln) rs988027905
NM_000070.2(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.2(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920
NM_000070.2(CAPN3):c.1115+1G>A rs1555421293
NM_000070.2(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.2(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1198delT (p.Ser400Profs) rs1555421842
NM_000070.2(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007
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.1302C>T (p.Asn434=) rs751429914
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.1322delG (p.Gly441Valfs) rs1555421871
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.1354G>C (p.Asp452His) rs727503838
NM_000070.2(CAPN3):c.1355-6G>T rs28364485
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.143G>A (p.Ser48Asn) rs767281996
NM_000070.2(CAPN3):c.1450C>A (p.Leu484Met) rs144220513
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957
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>G (p.Arg493Gly) rs557164942
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.2(CAPN3):c.1524+1G>T rs1275289254
NM_000070.2(CAPN3):c.1537-40C>G rs1172112518
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.2(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001
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.1714C>T (p.Arg572Trp) rs863224959
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.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.1793_1795delAAA (p.Lys598del) rs80338803
NM_000070.2(CAPN3):c.1801-1G>A rs886043752
NM_000070.2(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.2(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.2(CAPN3):c.1836_1838delCAA (p.Asn612del) rs1555422829
NM_000070.2(CAPN3):c.1838delA (p.Lys613Argfs) rs1555422832
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+13G>C rs769337232
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.1979A>G (p.Gln660Arg) rs1555422962
NM_000070.2(CAPN3):c.1981delA (p.Ile661Terfs) rs762471207
NM_000070.2(CAPN3):c.1988_1990delGAG (p.Gly663del) rs770529441
NM_000070.2(CAPN3):c.1992+1G>T rs863224961
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2007T>A (p.Cys669Ter) rs1555423015
NM_000070.2(CAPN3):c.2036_2037delCA (p.Thr679Serfs) rs886042418
NM_000070.2(CAPN3):c.2050+1G>A rs768374736
NM_000070.2(CAPN3):c.2050+1delG rs1555423027
NM_000070.2(CAPN3):c.2051-1G>C rs886042108
NM_000070.2(CAPN3):c.2069_2070delAC (p.His690Argfs) rs1555423046
NM_000070.2(CAPN3):c.2079A>G (p.Thr693=) rs540561728
NM_000070.2(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.2(CAPN3):c.2093G>A (p.Arg698His) rs190793093
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.2120A>G (p.Asp707Gly) rs200379491
NM_000070.2(CAPN3):c.212delA (p.Lys71Argfs) rs1555417321
NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.2(CAPN3):c.2184+2T>C rs1555423146
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2206_2211dup (p.Asp737_Gln738insThrAsp) rs1555423156
NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) rs587780289
NM_000070.2(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2245A>C (p.Asn749His) rs201012232
NM_000070.2(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.2(CAPN3):c.2258_2260delACG (p.Asp753del) rs886043333
NM_000070.2(CAPN3):c.2263+14A>G rs886038225
NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) rs775130589
NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) rs886044527
NM_000070.2(CAPN3):c.2297_2299delTTA (p.Ile766del) rs1555423200
NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2314_2316dup (p.Asp772_Lys773insAsp) rs753836989
NM_000070.2(CAPN3):c.2314_2317delGACA (p.Asp772Asnfs) rs764086484
NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.2(CAPN3):c.2330T>C (p.Ile777Thr) rs1457098622
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2337dup (p.Asp780Terfs) rs1447774727
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.235G>C (p.Glu79Gln) rs1555417328
NM_000070.2(CAPN3):c.2380+1G>T rs1555423222
NM_000070.2(CAPN3):c.2381-2A>G rs863224962
NM_000070.2(CAPN3):c.2390A>G (p.His797Arg) rs766630908
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2440-1G>A rs886044052
NM_000070.2(CAPN3):c.2440-6_2440-3delTTTC rs1555423426
NM_000070.2(CAPN3):c.2440-8_2440-7insA rs1555423427
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.259C>G (p.Leu87Val) rs558925493
NM_000070.2(CAPN3):c.2T>C (p.Met1Thr) rs1555417257
NM_000070.2(CAPN3):c.309G>A (p.Pro103=) rs376146681
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.2(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.2(CAPN3):c.369delA (p.Gly124Glufs) rs1555420083
NM_000070.2(CAPN3):c.380-8_395del24 rs1555420302
NM_000070.2(CAPN3):c.398C>T (p.Ala133Val) rs774685118
NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) rs746935735
NM_000070.2(CAPN3):c.440G>A (p.Arg147Gln) rs139671324
NM_000070.2(CAPN3):c.499-1G>A rs863224964
NM_000070.2(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.2(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665
NM_000070.2(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) rs398123149
NM_000070.2(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.2(CAPN3):c.593A>G (p.Asn198Ser) rs371166254
NM_000070.2(CAPN3):c.59delC (p.Pro20Glnfs) rs1555417271
NM_000070.2(CAPN3):c.632+4A>G rs1555420507
NM_000070.2(CAPN3):c.633G>C (p.Lys211Asn) rs779701414
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.689A>G (p.Asp230Gly) rs1555420629
NM_000070.2(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) rs776059672
NM_000070.2(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.2(CAPN3):c.741_751del11 (p.Met248Hisfs) rs1555420647
NM_000070.2(CAPN3):c.755T>C (p.Met252Thr) rs1555420652
NM_000070.2(CAPN3):c.75_83del9 (p.His25_Ala27del) rs1555417278
NM_000070.2(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.2(CAPN3):c.801+1G>A rs1459288402
NM_000070.2(CAPN3):c.802-9G>A rs761211705
NM_000070.2(CAPN3):c.835_837delTCT (p.Ser279del) rs776185666
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.945+5G>A rs773547765
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.2(CAPN3):c.958G>T (p.Val320Phe) rs1555421055
NM_000070.2(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.2(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.2(CAPN3):c.998G>A (p.Gly333Asp) rs200580015
NM_000070.3(CAPN3):c.2051-1G>T rs886042108

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