ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2A by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
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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.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr) rs371362494 0.00029
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00024
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635 0.00022
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992 0.00015
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000070.3(CAPN3):c.1524+3G>A rs374188055 0.00010
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly) rs754441267 0.00010
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg) rs747461807 0.00009
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155 0.00009
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066 0.00007
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met) rs553169803 0.00006
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.2249C>T (p.Ala750Val) rs371367772 0.00006
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu) rs1476836379 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn) rs753780627 0.00006
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys) rs370422576 0.00005
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716 0.00005
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521 0.00005
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala) rs146845466 0.00004
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln) rs1049698745 0.00004
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg) rs1355979542 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile) rs755736723 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 0.00004
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys) rs138914944 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.1800+5G>A rs373194123 0.00003
NM_000070.3(CAPN3):c.1869G>C (p.Glu623Asp) rs1391429681 0.00003
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr) rs776827432 0.00003
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro) rs373995517 0.00003
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr) rs749697583 0.00003
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp) rs764247865 0.00003
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala) rs1159580160 0.00003
NM_000070.3(CAPN3):c.905C>T (p.Ser302Leu) rs1223779045 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His) rs376273996 0.00002
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val) rs756657325 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln) rs201155077 0.00002
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met) rs747193982 0.00001
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413 0.00001
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu) rs746311413 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.1113T>A (p.Asp371Glu) rs774834498 0.00001
NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly) rs752046508 0.00001
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr) rs367863862 0.00001
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser) rs769367343 0.00001
NM_000070.3(CAPN3):c.1255G>A (p.Asp419Asn) rs1177153235 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1328C>T (p.Ser443Phe) rs1471965884 0.00001
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His) rs767398783 0.00001
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn) rs1272589475 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln) rs143583537 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000070.3(CAPN3):c.1520A>G (p.Tyr507Cys) rs771068557 0.00001
NM_000070.3(CAPN3):c.1537-3C>G rs187600280 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg) rs753338235 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.1796C>A (p.Thr599Asn) rs768832864 0.00001
NM_000070.3(CAPN3):c.1800+6T>G rs866147687 0.00001
NM_000070.3(CAPN3):c.1802C>T (p.Pro601Leu) rs199739866 0.00001
NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly) rs111525622 0.00001
NM_000070.3(CAPN3):c.1886G>A (p.Ser629Asn) rs1352460433 0.00001
NM_000070.3(CAPN3):c.1914+10C>T rs886042479 0.00001
NM_000070.3(CAPN3):c.1915C>A (p.Pro639Thr) rs758654496 0.00001
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys) rs1314405681 0.00001
NM_000070.3(CAPN3):c.2066C>T (p.Thr689Ile) rs1278777392 0.00001
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe) rs751443759 0.00001
NM_000070.3(CAPN3):c.2116-6C>G rs1287322728 0.00001
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp) rs750162858 0.00001
NM_000070.3(CAPN3):c.2284C>T (p.Leu762Phe) rs1269949487 0.00001
NM_000070.3(CAPN3):c.2348T>G (p.Ile783Ser) rs1309223901 0.00001
NM_000070.3(CAPN3):c.2381-19C>T rs370531419 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 0.00001
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu) rs1162942997 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681 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.397G>T (p.Ala133Ser) rs946415346 0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118 0.00001
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val) rs886044404 0.00001
NM_000070.3(CAPN3):c.452A>C (p.His151Pro) rs766369281 0.00001
NM_000070.3(CAPN3):c.452A>G (p.His151Arg) rs766369281 0.00001
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr) rs1177741110 0.00001
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys) rs200944841 0.00001
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=) rs1401194449 0.00001
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665 0.00001
NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn) rs767477904 0.00001
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro) rs1001356986 0.00001
NM_000070.3(CAPN3):c.632+3A>G rs201660362 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.635T>C (p.Leu212Pro) rs886042100 0.00001
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr) rs747017866 0.00001
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785 0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872 0.00001
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449 0.00001
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala) rs761238719 0.00001
NM_000070.3(CAPN3):c.801T>C (p.Asp267=) rs1271482252 0.00001
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys) rs765292152 0.00001
NM_000070.3(CAPN3):c.847A>G (p.Met283Val) rs756786521 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu) rs1192202929 0.00001
NM_000070.3(CAPN3):c.943C>T (p.Arg315Trp) rs748651267 0.00001
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile) rs1489416145 0.00001
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val) rs759881880 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr) rs779526097
NM_000070.3(CAPN3):c.100G>A (p.Ala34Thr) rs772534302
NM_000070.3(CAPN3):c.101C>G (p.Ala34Gly) rs2052593680
NM_000070.3(CAPN3):c.1029+4A>G
NM_000070.3(CAPN3):c.1029+6C>T
NM_000070.3(CAPN3):c.1030-14T>C
NM_000070.3(CAPN3):c.1040A>G (p.Lys347Arg) rs2141180698
NM_000070.3(CAPN3):c.1042G>A (p.Gly348Ser)
NM_000070.3(CAPN3):c.1058T>C (p.Leu353Pro)
NM_000070.3(CAPN3):c.107G>C (p.Gly36Ala)
NM_000070.3(CAPN3):c.1082G>A (p.Gly361Asp) rs886043290
NM_000070.3(CAPN3):c.1098C>A (p.Asn366Lys)
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn) rs760121531
NM_000070.3(CAPN3):c.1132T>C (p.Phe378Leu) rs1595831381
NM_000070.3(CAPN3):c.1154C>T (p.Ala385Val) rs934135114
NM_000070.3(CAPN3):c.1163A>G (p.Gln388Arg) rs2141186439
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg) rs1595831427
NM_000070.3(CAPN3):c.1192T>C (p.Trp398Arg) rs2053709952
NM_000070.3(CAPN3):c.1195A>G (p.Met399Val)
NM_000070.3(CAPN3):c.1211T>C (p.Phe404Ser) rs2141193571
NM_000070.3(CAPN3):c.1220A>G (p.His407Arg)
NM_000070.3(CAPN3):c.1238T>C (p.Ile413Thr)
NM_000070.3(CAPN3):c.1277T>C (p.Leu426Pro) rs2141193792
NM_000070.3(CAPN3):c.1289C>A (p.Thr430Lys) rs199725329
NM_000070.3(CAPN3):c.1291G>C (p.Val431Leu)
NM_000070.3(CAPN3):c.1305G>C (p.Glu435Asp)
NM_000070.3(CAPN3):c.1310G>T (p.Arg437Leu)
NM_000070.3(CAPN3):c.1314G>C (p.Trp438Cys) rs2053807675
NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)
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.1344C>T (p.Arg448=)
NM_000070.3(CAPN3):c.1345A>G (p.Asn449Asp) rs886043144
NM_000070.3(CAPN3):c.1352C>T (p.Pro451Leu)
NM_000070.3(CAPN3):c.1354+6A>C
NM_000070.3(CAPN3):c.1354+8A>G rs2053810204
NM_000070.3(CAPN3):c.1355-10G>A rs1388234925
NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His) rs1555422101
NM_000070.3(CAPN3):c.13A>G (p.Ile5Val) rs1265909242
NM_000070.3(CAPN3):c.1403A>G (p.Asp468Gly) rs2141199495
NM_000070.3(CAPN3):c.1404C>G (p.Asp468Glu) rs534326487
NM_000070.3(CAPN3):c.1419C>G (p.Asp473Glu)
NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro) rs886043175
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro) rs886043921
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) rs751104396
NM_000070.3(CAPN3):c.1513G>A (p.Ala505Thr) rs1555422133
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val) rs140828326
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.151T>C (p.Phe51Leu)
NM_000070.3(CAPN3):c.1522G>A (p.Glu508Lys)
NM_000070.3(CAPN3):c.1524+3del rs1566980514
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1542C>A (p.His514Gln) rs377215244
NM_000070.3(CAPN3):c.1562A>C (p.Gln521Pro)
NM_000070.3(CAPN3):c.1582A>G (p.Asn528Asp)
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys) rs530529988
NM_000070.3(CAPN3):c.160A>G (p.Ile54Val) rs2052596155
NM_000070.3(CAPN3):c.1615_1616insTGCGGTTTGCTCCTGGCCTTGCAAAGGCCT (p.Asn539delinsMetArgPheAlaProGlyLeuAlaLysAlaTyr) rs2053912617
NM_000070.3(CAPN3):c.1619T>C (p.Met540Thr)
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) rs142004418
NM_000070.3(CAPN3):c.1628T>G (p.Val543Gly)
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)
NM_000070.3(CAPN3):c.1642C>T (p.Arg548Cys)
NM_000070.3(CAPN3):c.1656C>A (p.Ser552Arg)
NM_000070.3(CAPN3):c.1656C>T (p.Ser552=) rs751666282
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu) rs138172448
NM_000070.3(CAPN3):c.1672C>T (p.Pro558Ser)
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)
NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly) rs863224959
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_000070.3(CAPN3):c.1718T>A (p.Val573Asp)
NM_000070.3(CAPN3):c.1733G>A (p.Arg578Lys)
NM_000070.3(CAPN3):c.1745+3G>C
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu) rs370809015
NM_000070.3(CAPN3):c.1775G>A (p.Arg592Gln)
NM_000070.3(CAPN3):c.1778C>T (p.Pro593Leu)
NM_000070.3(CAPN3):c.1782G>A (p.Val594=)
NM_000070.3(CAPN3):c.1788G>T (p.Lys596Asn)
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)
NM_000070.3(CAPN3):c.1807A>G (p.Ile603Val)
NM_000070.3(CAPN3):c.1810_1812del (p.Phe604del) rs2054083117
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)
NM_000070.3(CAPN3):c.1832_1834del (p.Ser611del)
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
NM_000070.3(CAPN3):c.1904A>G (p.Gln635Arg)
NM_000070.3(CAPN3):c.1915-3C>T
NM_000070.3(CAPN3):c.1922C>T (p.Pro641Leu) rs2054128388
NM_000070.3(CAPN3):c.193C>G (p.His65Asp) rs898013388
NM_000070.3(CAPN3):c.1945G>A (p.Glu649Lys)
NM_000070.3(CAPN3):c.1963C>T (p.Arg655Trp)
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln) rs2052597232
NM_000070.3(CAPN3):c.1982T>A (p.Ile661Lys) rs2141219945
NM_000070.3(CAPN3):c.1982T>C (p.Ile661Thr)
NM_000070.3(CAPN3):c.1984G>C (p.Ala662Pro) rs187054121
NM_000070.3(CAPN3):c.1997T>A (p.Met666Lys)
NM_000070.3(CAPN3):c.1997T>C (p.Met666Thr)
NM_000070.3(CAPN3):c.2008G>A (p.Ala670Thr)
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg) rs2141102622
NM_000070.3(CAPN3):c.2032A>G (p.Asn678Asp) rs2054149654
NM_000070.3(CAPN3):c.2033A>G (p.Asn678Ser)
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala) rs750373128
NM_000070.3(CAPN3):c.2068C>G (p.His690Asp) rs2141222124
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val) rs2054156832
NM_000070.3(CAPN3):c.2090G>C (p.Cys697Ser)
NM_000070.3(CAPN3):c.2096G>A (p.Ser699Asn)
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr) rs1008776680
NM_000070.3(CAPN3):c.2115+5C>G
NM_000070.3(CAPN3):c.2116-7C>T
NM_000070.3(CAPN3):c.2116A>G (p.Thr706Ala) rs2054176662
NM_000070.3(CAPN3):c.2117C>G (p.Thr706Arg) rs1335796666
NM_000070.3(CAPN3):c.211A>G (p.Lys71Glu) rs1595794265
NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr) rs886044264
NM_000070.3(CAPN3):c.2161T>C (p.Trp721Arg)
NM_000070.3(CAPN3):c.2173A>G (p.Lys725Glu) rs759328241
NM_000070.3(CAPN3):c.2184+5G>A rs2054181284
NM_000070.3(CAPN3):c.2200T>C (p.Tyr734His)
NM_000070.3(CAPN3):c.2231G>A (p.Ser744Asn) rs886044480
NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr) rs886044480
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2263+11G>C
NM_000070.3(CAPN3):c.2263+3G>C rs2054188689
NM_000070.3(CAPN3):c.2263+5T>C
NM_000070.3(CAPN3):c.2264-10C>A
NM_000070.3(CAPN3):c.2264-5C>G
NM_000070.3(CAPN3):c.2264-7T>A rs2054199758
NM_000070.3(CAPN3):c.226G>C (p.Val76Leu)
NM_000070.3(CAPN3):c.2271_2282dup (p.His757_Asn760dup) rs1595847810
NM_000070.3(CAPN3):c.2272C>T (p.Leu758Phe)
NM_000070.3(CAPN3):c.2294T>C (p.Ile765Thr)
NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn) rs2141102703
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro) rs80338802
NM_000070.3(CAPN3):c.2308T>G (p.Tyr770Asp)
NM_000070.3(CAPN3):c.2314G>A (p.Asp772Asn)
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys) rs769208910
NM_000070.3(CAPN3):c.2375T>C (p.Met792Thr)
NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser) rs886042800
NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu) rs2052598737
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2430del (p.Asn810fs)
NM_000070.3(CAPN3):c.2440-15T>A
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.2440T>C (p.Trp814Arg)
NM_000070.3(CAPN3):c.2442G>C (p.Trp814Cys) rs1595850277
NM_000070.3(CAPN3):c.2449C>T (p.Leu817Phe) rs2054258897
NM_000070.3(CAPN3):c.2458T>A (p.Tyr820Asn)
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.25G>C (p.Val9Leu) rs2052590373
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu) rs2052600414
NM_000070.3(CAPN3):c.287A>G (p.Gln96Arg) rs2141102905
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser) rs2141102957
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu) rs886042315
NM_000070.3(CAPN3):c.317G>C (p.Cys106Ser)
NM_000070.3(CAPN3):c.323A>G (p.Asn108Ser) rs2053333610
NM_000070.3(CAPN3):c.324T>A (p.Asn108Lys) rs2141155500
NM_000070.3(CAPN3):c.326C>A (p.Pro109His) rs2141155515
NM_000070.3(CAPN3):c.334A>G (p.Ile112Val)
NM_000070.3(CAPN3):c.349A>G (p.Asn117Asp)
NM_000070.3(CAPN3):c.355A>G (p.Thr119Ala) rs1218735599
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu) rs886043027
NM_000070.3(CAPN3):c.361A>G (p.Ile121Val)
NM_000070.3(CAPN3):c.379+5G>T rs886042704
NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp) rs1555420308
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro) rs1555420309
NM_000070.3(CAPN3):c.412C>G (p.Leu138Val) rs1042151947
NM_000070.3(CAPN3):c.41C>A (p.Ala14Glu)
NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe)
NM_000070.3(CAPN3):c.439C>A (p.Arg147=) rs878854364
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.459A>C (p.Gln153His) rs2141160666
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val) rs780611743
NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro) rs749697583
NM_000070.3(CAPN3):c.478G>T (p.Ala160Ser) rs749697583
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg) rs1566974488
NM_000070.3(CAPN3):c.498+7T>A
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.506G>A (p.Arg169His)
NM_000070.3(CAPN3):c.517T>G (p.Trp173Gly)
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.526G>T (p.Val176Leu) rs774114705
NM_000070.3(CAPN3):c.539A>G (p.Asp180Gly)
NM_000070.3(CAPN3):c.553T>G (p.Tyr185Asp) rs1566975069
NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys) rs2141164830
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) rs148855999
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.5C>G (p.Pro2Arg)
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
NM_000070.3(CAPN3):c.602G>C (p.Trp201Ser)
NM_000070.3(CAPN3):c.613C>G (p.Leu205Val)
NM_000070.3(CAPN3):c.619_620delinsGC (p.Lys207Ala) rs2141165016
NM_000070.3(CAPN3):c.61G>T (p.Gly21Trp) rs886043070
NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr) rs886043108
NM_000070.3(CAPN3):c.622G>T (p.Ala208Ser) rs1566975157
NM_000070.3(CAPN3):c.628G>A (p.Ala210Thr) rs2141165044
NM_000070.3(CAPN3):c.629C>G (p.Ala210Gly) rs2053446874
NM_000070.3(CAPN3):c.631A>G (p.Lys211Glu) rs1039308482
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.646T>C (p.Tyr216His) rs2141167665
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)
NM_000070.3(CAPN3):c.670A>T (p.Thr224Ser) rs2141167741
NM_000070.3(CAPN3):c.67G>C (p.Val23Leu)
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val) rs1566975567
NM_000070.3(CAPN3):c.688G>C (p.Asp230His) rs2053479765
NM_000070.3(CAPN3):c.692T>C (p.Phe231Ser) rs1054458336
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro) rs886044405
NM_000070.3(CAPN3):c.698G>A (p.Gly233Glu)
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.703G>A (p.Val235Met) rs1302248441
NM_000070.3(CAPN3):c.712T>A (p.Phe238Ile)
NM_000070.3(CAPN3):c.733C>T (p.Pro245Ser)
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.3(CAPN3):c.740A>G (p.Asp247Gly) rs2141168006
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg) rs762020512
NM_000070.3(CAPN3):c.784A>G (p.Met262Val)
NM_000070.3(CAPN3):c.784A>T (p.Met262Leu)
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr) rs2053485296
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355
NM_000070.3(CAPN3):c.801+3A>C
NM_000070.3(CAPN3):c.802-3C>T rs1376586945
NM_000070.3(CAPN3):c.809C>T (p.Thr270Met) rs1219356790
NM_000070.3(CAPN3):c.814A>G (p.Met272Val)
NM_000070.3(CAPN3):c.830C>T (p.Ser277Phe)
NM_000070.3(CAPN3):c.835_837del (p.Ser279del) rs776185666
NM_000070.3(CAPN3):c.859A>G (p.Ile287Val) rs1595823793
NM_000070.3(CAPN3):c.874A>T (p.Arg292Trp) rs1555420773
NM_000070.3(CAPN3):c.882G>A (p.Met294Ile) rs2141170446
NM_000070.3(CAPN3):c.896T>A (p.Leu299His) rs985712258
NM_000070.3(CAPN3):c.903C>A (p.Asp301Glu) rs2141170523
NM_000070.3(CAPN3):c.913G>C (p.Asp305His) rs753780627
NM_000070.3(CAPN3):c.916C>T (p.Pro306Ser)
NM_000070.3(CAPN3):c.928G>A (p.Asp310Asn)
NM_000070.3(CAPN3):c.934A>G (p.Arg312Gly)
NM_000070.3(CAPN3):c.943C>G (p.Arg315Gly)
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.945G>C (p.Arg315=)
NM_000070.3(CAPN3):c.945_945+47dup
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys) rs2053589191
NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)
NM_000070.3(CAPN3):c.982T>C (p.Cys328Arg)

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