ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance for Limb-girdle muscular dystrophy, type 2A

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Total variants: 174
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HGVS dbSNP
NM_000070.2(CAPN3):c.2440-6_2440-3delTTTC rs1555423426
NM_000070.3(CAPN3):c.*170G>C rs886051149
NM_000070.3(CAPN3):c.*202A>G rs886051150
NM_000070.3(CAPN3):c.*211G>A rs112661890
NM_000070.3(CAPN3):c.*436del rs774244796
NM_000070.3(CAPN3):c.*443A>C rs886051152
NM_000070.3(CAPN3):c.*482_*485dup rs780202767
NM_000070.3(CAPN3):c.*534T>C rs772498665
NM_000070.3(CAPN3):c.-104G>C rs149698681
NM_000070.3(CAPN3):c.-131G>T rs113881834
NM_000070.3(CAPN3):c.-300C>G rs886051147
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn)
NM_000070.3(CAPN3):c.1132T>C (p.Phe378Leu)
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg)
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr)
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007
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.1292T>C (p.Val431Ala) rs199625801
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs) rs1566979465
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
NM_000070.3(CAPN3):c.1328C>T (p.Ser443Phe)
NM_000070.3(CAPN3):c.1334G>A (p.Gly445Glu) rs1555421875
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His) rs727503838
NM_000070.3(CAPN3):c.1355-6G>T rs28364485
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His) rs1555422101
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His)
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn)
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765
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.1524+3del rs1566980514
NM_000070.3(CAPN3):c.1537-40C>G rs1172112518
NM_000070.3(CAPN3):c.1542C>A (p.His514Gln)
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) 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.1637G>A (p.Arg546His) rs762091599
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu)
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met) rs370809015
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu) rs370809015
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del) rs80338803
NM_000070.3(CAPN3):c.1800+5G>A
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.3(CAPN3):c.1833_1835CAA[1] (p.Asn612del) rs1555422829
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149
NM_000070.3(CAPN3):c.1914+10C>T rs886042479
NM_000070.3(CAPN3):c.193C>G (p.His65Asp) rs898013388
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys)
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln)
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg) rs1555422962
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del) rs770529441
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr)
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met) rs553169803
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His) rs886044427
NM_000070.3(CAPN3):c.211A>G (p.Lys71Glu)
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=) rs886043220
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup) rs1555423156
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His) rs201012232
NM_000070.3(CAPN3):c.2249C>T (p.Ala750Val)
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
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.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325
NM_000070.3(CAPN3):c.2271_2282dup (p.His757_Asn760dup)
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del) rs1555423200
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr) rs1457098622
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln) rs1555417328
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys)
NM_000070.3(CAPN3):c.2381-12A>G rs73402734
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.2440-1G>C
NM_000070.3(CAPN3):c.2440-8_2440-7insA rs1555423427
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu) rs1162942997
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu) rs1476836379
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092
NM_000070.3(CAPN3):c.2del (p.Met1fs) rs1566965806
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu) rs886042315
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.349A>C (p.Asn117His)
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu) rs886043027
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys) rs886043437
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro) rs749697583
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290
NM_000070.3(CAPN3):c.618G>A (p.Glu206=) rs541597520
NM_000070.3(CAPN3):c.622G>T (p.Ala208Ser) rs1566975157
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del) rs1555417278
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg) rs762020512
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521
NM_000070.3(CAPN3):c.835_837del (p.Ser279del) rs776185666
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln)
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155
NM_000070.3(CAPN3):c.874A>T (p.Arg292Trp) rs1555420773
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln)
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe) rs1555421055
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly) rs754441267
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015

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