ClinVar Miner

List of variants in gene CAPN3 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 348
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.2185-5_2190dupGCCAGAAAATT rs398123144
NM_000070.2(CAPN3):c.223dup rs398123146
NM_000070.2(CAPN3):c.319G>T rs1801505
NM_000070.2(CAPN3):c.439C>T rs878854364
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.946-4_946-1delACAG rs766156798
NM_000070.3(CAPN3):c.*134C>T rs3098423
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1007A>G (p.Tyr336Cys) rs1566977107
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.3(CAPN3):c.1020G>T (p.Gly340=) rs372401631
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1030-7G>A rs886043344
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
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.1072A>G (p.Asn358Asp) rs79036902
NM_000070.3(CAPN3):c.1073A>G (p.Asn358Ser) rs886042476
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.1082G>A (p.Gly361Asp) rs886043290
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066
NM_000070.3(CAPN3):c.1115+8A>G rs760196248
NM_000070.3(CAPN3):c.1116-5A>G rs28364467
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.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1148A>G (p.Glu383Gly) rs886043889
NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly) rs752046508
NM_000070.3(CAPN3):c.1193G>C (p.Trp398Ser) rs886042537
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
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.1263G>A (p.Leu421=) rs372450879
NM_000070.3(CAPN3):c.1267T>C (p.Ser423Pro) rs1555421851
NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)
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.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1325G>A (p.Cys442Tyr) rs886042272
NM_000070.3(CAPN3):c.1331delinsTCGTACCCAG (p.Ala444delinsValValProSer) rs1566979504
NM_000070.3(CAPN3):c.1332C>T (p.Ala444=) rs886042968
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
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.1345A>C (p.Asn449His) rs886043144
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366
NM_000070.3(CAPN3):c.1353A>C (p.Pro451=) rs886044507
NM_000070.3(CAPN3):c.1354G>T (p.Asp452Tyr) rs727503838
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1373del (p.Pro458fs) rs886043705
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His) rs1555422101
NM_000070.3(CAPN3):c.1378T>A (p.Tyr460Asn) rs141987399
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr) rs1555422111
NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro) rs886043175
NM_000070.3(CAPN3):c.1444G>A (p.Val482Met) rs1566980383
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957
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.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro) rs886043921
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1513G>C (p.Ala505Pro) rs1555422133
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.1521C>T (p.Tyr507=) rs370231427
NM_000070.3(CAPN3):c.1524+2T>C rs1555422145
NM_000070.3(CAPN3):c.1524+3G>A rs374188055
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1536+9G>A rs1196127556
NM_000070.3(CAPN3):c.1537-48T>C rs2241827
NM_000070.3(CAPN3):c.1542C>T (p.His514=) rs377215244
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.1566G>A (p.Lys522=) rs201116482
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=) rs530529988
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720
NM_000070.3(CAPN3):c.1588T>C (p.Ser530Pro) rs757016558
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) rs142004418
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.1637G>A (p.Arg546His) rs762091599
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
NM_000070.3(CAPN3):c.1656C>T (p.Ser552=) rs751666282
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter) rs752848213
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu) rs546820887
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala) rs146845466
NM_000070.3(CAPN3):c.1686G>A (p.Glu562=) rs569866483
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1702G>C (p.Glu568Gln) rs763183871
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1708_1719del (p.Ile570_Val573del) rs886043165
NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly) rs863224959
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1746-7C>G rs199978708
NM_000070.3(CAPN3):c.1763T>C (p.Ile588Thr) rs1555422386
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834
NM_000070.3(CAPN3):c.1782+5G>A rs886043173
NM_000070.3(CAPN3):c.1783-5T>C rs780680647
NM_000070.3(CAPN3):c.1783-9C>T rs1555422573
NM_000070.3(CAPN3):c.1795A>G (p.Thr599Ala) rs1555422576
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1801-1G>A rs886043752
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
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.183C>T (p.Phe61=) rs146069933
NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly) rs111525622
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1863dup (p.Glu622fs) rs886044417
NM_000070.3(CAPN3):c.1869G>A (p.Glu623=) rs1391429681
NM_000070.3(CAPN3):c.1869G>C (p.Glu623Asp) rs1391429681
NM_000070.3(CAPN3):c.1914+10C>T rs886042479
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
NM_000070.3(CAPN3):c.1957C>T (p.Gln653Ter) rs886042927
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1992+2T>A
NM_000070.3(CAPN3):c.1993-1G>A rs369552114
NM_000070.3(CAPN3):c.1993-5C>T rs1566984719
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) rs776827432
NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904
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.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2051-3C>G rs201294691
NM_000070.3(CAPN3):c.2061G>A (p.Leu687=) rs1566984937
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr) rs762776236
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=) rs371577901
NM_000070.3(CAPN3):c.2115+2T>C rs1555423060
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His) rs886044427
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.2125T>C (p.Ser709Pro) rs886043484
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr) rs886044264
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2184+3G>A rs771917810
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=) rs886043220
NM_000070.3(CAPN3):c.2185-2A>G rs886041335
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp) rs750162858
NM_000070.3(CAPN3):c.2224A>G (p.Ile742Val) rs764798491
NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr) rs886044480
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690
NM_000070.3(CAPN3):c.2238G>T (p.Glu746Asp) rs1555423160
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.3(CAPN3):c.2251_2254dup (p.Asn752fs) rs398123147
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.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro) rs373995517
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527
NM_000070.3(CAPN3):c.2292C>T (p.Asp764=) rs187279903
NM_000070.3(CAPN3):c.2293A>G (p.Ile765Val) rs1555423192
NM_000070.3(CAPN3):c.2293_2294delinsGA (p.Ile765Asp) rs1555423195
NM_000070.3(CAPN3):c.2294T>A (p.Ile765Asn) rs577644038
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=) rs780810538
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.3(CAPN3):c.2331C>T (p.Ile777=) rs745856298
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2348T>G (p.Ile783Ser) rs1309223901
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile)
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs) rs80338804
NM_000070.3(CAPN3):c.2363G>T (p.Arg788Met) rs769208910
NM_000070.3(CAPN3):c.2363delinsTCT (p.Arg788fs) rs1555423219
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2380+19C>T rs141234995
NM_000070.3(CAPN3):c.2381-17T>G rs794727370
NM_000070.3(CAPN3):c.2384C>G (p.Ala795Gly) rs762967335
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser) rs886042800
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2409A>T (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658
NM_000070.3(CAPN3):c.2431G>A (p.Val811Ile) rs200516941
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.2440-1G>A rs886044052
NM_000070.3(CAPN3):c.2440-3C>G rs761757153
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432
NM_000070.3(CAPN3):c.255_256CT[2] (p.Leu87fs) rs763649825
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912
NM_000070.3(CAPN3):c.270C>T (p.Ser90=) rs753686702
NM_000070.3(CAPN3):c.288G>T (p.Gln96His) rs374708755
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu) rs886042315
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.331T>A (p.Phe111Ile) rs1555420077
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.351C>T (p.Asn117=) rs772886155
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu) rs886043027
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met) rs901764287
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys) rs886043437
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.372A>T (p.Gly124=) rs886044048
NM_000070.3(CAPN3):c.379+5G>T rs886042704
NM_000070.3(CAPN3):c.380-18_380-3del rs886043254
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.398C>T (p.Ala133Val) rs774685118
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val) rs886044404
NM_000070.3(CAPN3):c.442G>C (p.Val148Leu) rs886042672
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val)
NM_000070.3(CAPN3):c.476A>G (p.Tyr159Cys) rs886043025
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro) rs749697583
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.492C>T (p.His164=)
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
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.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.526G>T (p.Val176Leu) rs774114705
NM_000070.3(CAPN3):c.533T>A (p.Ile178Lys) rs794727615
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.534A>G (p.Ile178Met) rs886042965
NM_000070.3(CAPN3):c.536A>G (p.Asp179Gly) rs886043429
NM_000070.3(CAPN3):c.544C>G (p.Leu182Val) rs1555420484
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.3(CAPN3):c.553T>G (p.Tyr185Asp) rs1566975069
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe) rs886043143
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.589C>T (p.Arg197Cys) rs199718635
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro)
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.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.632+3A>G rs201660362
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414
NM_000070.3(CAPN3):c.635T>C (p.Leu212Pro) rs886042100
NM_000070.3(CAPN3):c.639dup (p.Gly214fs) rs886043222
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.644C>T (p.Ser215Phe) rs1566975550
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=) rs138846390
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val) rs1566975567
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro) rs886044405
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter) rs776059672
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785
NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.763G>A (p.Ala255Thr) rs886043047
NM_000070.3(CAPN3):c.768C>T (p.Ile256=) rs748032310
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.3(CAPN3):c.783C>T (p.Leu261=) rs1566975668
NM_000070.3(CAPN3):c.788G>A (p.Gly263Asp) rs886042588
NM_000070.3(CAPN3):c.794C>T (p.Ser265Phe) rs886043166
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala) rs761238719
NM_000070.3(CAPN3):c.802-10C>T rs747895099
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521
NM_000070.3(CAPN3):c.844A>T (p.Asn282Tyr) rs886044104
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.864A>G (p.Ala288=) rs1555420768
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155
NM_000070.3(CAPN3):c.87C>G (p.Ser29Arg) rs1296837467
NM_000070.3(CAPN3):c.883G>C (p.Asp295His) rs1566976062
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.884A>T (p.Asp295Val) rs765291508
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)
NM_000070.3(CAPN3):c.905C>T (p.Ser302Leu) rs1223779045
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr) rs371362494
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015

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.