ClinVar Miner

List of variants in gene CAPN3 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97839
NM_000070.3(CAPN3):c.1116-226A>G rs3115877 0.93299
NM_000070.3(CAPN3):c.1992+110T>C rs3115883 0.77192
NM_000070.3(CAPN3):c.1783-893C>G rs2412711 0.75948
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.75536
NM_000070.3(CAPN3):c.1915-298G>C rs3115882 0.61918
NM_000070.3(CAPN3):c.2381-79T>C rs3115884 0.44779
NM_000070.3(CAPN3):c.1782+183A>T rs7163986 0.26928
NM_000070.3(CAPN3):c.499-162T>C rs751572 0.24211
NM_000070.3(CAPN3):c.633-216C>T rs28364416 0.22619
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22429
NM_000070.3(CAPN3):c.310-244G>A rs28364388 0.16401
NM_000070.3(CAPN3):c.946-157C>G rs12324205 0.14423
NM_000070.3(CAPN3):c.1194-26C>G rs3743003 0.13055
NM_000070.3(CAPN3):c.633-69G>A rs4924675 0.12331
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09748
NM_000070.2(CAPN3):c.-408T>C rs16973174 0.09025
NM_000070.3(CAPN3):c.1783-59C>T rs28364508 0.07152
NM_000070.3(CAPN3):c.1193+163A>G rs3803342 0.06989
NM_000070.3(CAPN3):c.1746-221G>C rs28364498 0.06970
NM_000070.3(CAPN3):c.1800+143G>A rs28364509 0.06567
NM_000070.3(CAPN3):c.632+263A>G rs7174880 0.05652
NM_000070.3(CAPN3):c.1782+263_1782+264insAGAG rs111814065 0.05358
NM_000070.3(CAPN3):c.1801-288G>C rs28364526 0.05301
NM_000070.3(CAPN3):c.1914+30G>A rs2289293 0.05262
NM_000070.3(CAPN3):c.2439+69C>T rs28364544 0.05187
NM_000070.3(CAPN3):c.1536+133T>C rs28364491 0.05162
NM_000070.3(CAPN3):c.2381-114C>G rs28364541 0.05072
NM_000070.3(CAPN3):c.2381-132G>C rs28364540 0.05072
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05037
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000070.3(CAPN3):c.1801-188A>G rs16952474 0.03688
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000070.3(CAPN3):c.1193+243C>T rs28364469 0.03255
NM_000070.3(CAPN3):c.1116-116C>G rs16973233 0.03217
NC_000015.10:g.42359484A>C rs28364363 0.02924
NM_000070.3(CAPN3):c.945+56C>T rs28364427 0.02897
NM_000070.3(CAPN3):c.1783-63C>G rs28364507 0.02418
NM_000070.3(CAPN3):c.633-138C>T rs28364417 0.02383
NM_000070.3(CAPN3):c.1915-98C>T rs28364532 0.02370
NM_000070.3(CAPN3):c.1536+263C>A rs28364493 0.02193
NM_000070.3(CAPN3):c.802-120A>T rs28364426 0.02042
NM_000070.3(CAPN3):c.1800+150C>T rs28364510 0.02015
NM_000070.3(CAPN3):c.1354+61C>T rs28364474 0.01854
NM_000070.3(CAPN3):c.2116-186T>C rs28364534 0.01838
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_000070.3(CAPN3):c.1536+235C>T rs28364492 0.01755
NM_000070.3(CAPN3):c.1992+42C>G rs8028539 0.01606
NM_000070.3(CAPN3):c.1029+198C>T rs28364443 0.01597
NM_000070.3(CAPN3):c.1030-164del rs201181640 0.01467
NM_000070.3(CAPN3):c.1915-127C>T rs28364531 0.01403
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01237
NM_000070.2(CAPN3):c.-614C>T rs28364362 0.01193
NM_000070.2(CAPN3):c.-641A>G rs28364361 0.01193
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_000070.3(CAPN3):c.946-187G>A rs28364440 0.01142
NM_000070.3(CAPN3):c.1524+81C>T rs28364486 0.01086
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01076
NM_000070.3(CAPN3):c.2051-29C>T rs146599748 0.01007
NM_000070.3(CAPN3):c.2050+31T>G rs572946490 0.01000
NM_000070.3(CAPN3):c.310-44A>G rs111276174 0.00969
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.00948
NM_000070.3(CAPN3):c.1354+96G>A rs3743002 0.00944
NM_000070.3(CAPN3):c.2050+26T>G rs748546059 0.00929
NM_000070.3(CAPN3):c.309+32T>C rs576780026 0.00923
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000070.3(CAPN3):c.309+30_309+31insG rs377626958 0.00853
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00829
NM_000070.3(CAPN3):c.802-270G>A rs115311588 0.00803
NM_000070.3(CAPN3):c.1782+801C>T rs147193629 0.00800
NM_000070.3(CAPN3):c.309+232A>G rs28364368 0.00740
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00661
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00579
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_000070.3(CAPN3):c.1194-45C>T rs3743004 0.00545
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00486
NM_000070.3(CAPN3):c.2439+151C>T rs114130651 0.00455
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_000070.3(CAPN3):c.1525-35del rs28364489 0.00345
NM_000070.3(CAPN3):c.1914+310G>A rs28364529 0.00333
NM_000070.3(CAPN3):c.1782+223A>G rs141693768 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_000070.3(CAPN3):c.2264-97C>T rs142261118 0.00305
NM_000070.3(CAPN3):c.1915-35C>A rs180926729 0.00285
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00177
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00155
NM_000070.3(CAPN3):c.1783-989A>C rs28364501 0.00081
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000070.3(CAPN3):c.309+12C>T rs200773265 0.00067
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00063
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432 0.00034
NM_000070.3(CAPN3):c.294C>G (p.Val98=) rs147493037 0.00034
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00032
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00021
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00020
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 0.00015
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00015
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00015
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.1466G>A (p.Arg489Gln) rs147764579 0.00014
NM_000070.3(CAPN3):c.945+15G>A rs567256305 0.00014
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00013
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 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.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.499-13C>T rs201344810 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00005
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=) rs540561728 0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=) rs372968945 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 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.2306G>A (p.Arg769Gln) rs80338802 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.-25G>C rs1405523432 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914 0.00002
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu) rs546820887 0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00002
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 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.1084C>T (p.Gln362Ter) rs965032792 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 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.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2152C>T (p.His718Tyr) rs1595846976 0.00001
NM_000070.3(CAPN3):c.2185-16A>G rs1339644598 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2290G>A (p.Asp764Asn) rs2548294351 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.288G>T (p.Gln96His) rs374708755 0.00001
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.801+19G>A rs767858015 0.00001
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys) rs765292152 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu) rs771608215
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893
NM_000070.3(CAPN3):c.1030-104G>A rs28364454
NM_000070.3(CAPN3):c.1053del (p.Lys352fs) rs1595828589
NM_000070.3(CAPN3):c.1115+181C>A rs28364457
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1126T>G (p.Trp376Gly) rs1064794448
NM_000070.3(CAPN3):c.1194-26CT[4] rs367976885
NM_000070.3(CAPN3):c.1355-154del rs35924291
NM_000070.3(CAPN3):c.1355-155_1355-154del rs35924291
NM_000070.3(CAPN3):c.1355-155_1355-154insTC rs3036710
NM_000070.3(CAPN3):c.1355-156C>T rs28364482
NM_000070.3(CAPN3):c.1355-156_1355-155insT rs531854862
NM_000070.3(CAPN3):c.1355-165C>G rs559361869
NM_000070.3(CAPN3):c.1355-166C>G rs74919029
NM_000070.3(CAPN3):c.1411C>T (p.Pro471Ser)
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg) rs761637940
NM_000070.3(CAPN3):c.1495C>G (p.Leu499Val) rs1595837194
NM_000070.3(CAPN3):c.1525-16T>G rs1555422168
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1701G>A (p.Gly567=) rs1595838740
NM_000070.3(CAPN3):c.1711C>G (p.Leu571Val) rs2053917447
NM_000070.3(CAPN3):c.172G>A (p.Glu58Lys) rs750022600
NM_000070.3(CAPN3):c.1746-189G>A rs28364499
NM_000070.3(CAPN3):c.1782+306G>T rs138407929
NM_000070.3(CAPN3):c.1783-781G>A rs28364503
NM_000070.3(CAPN3):c.1801-304dup rs367758932
NM_000070.3(CAPN3):c.1801-306_1801-304del rs367758932
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter) rs2548287991
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) rs776827432
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val) rs2054156832
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2116-105G>C rs28364536
NM_000070.3(CAPN3):c.2116-181C>T rs28364535
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2150T>C (p.Phe717Ser) rs999378228
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val) rs2141223812
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser) rs1085307534
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2362del (p.Arg788fs) rs2548294565
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2440-47G>T rs201396957
NM_000070.3(CAPN3):c.2440-50_2440-49insC rs200202467
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.309+267_309+268dup rs397962506
NM_000070.3(CAPN3):c.309+268del rs397962506
NM_000070.3(CAPN3):c.309+268dup rs397962506
NM_000070.3(CAPN3):c.368_370del (p.Gln123_Gly124delinsArg) rs2141155690
NM_000070.3(CAPN3):c.379+216G>C rs28364389
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.49C>T (p.Pro17Ser) rs2548224530
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
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.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.632+217T>A rs28364410
NM_000070.3(CAPN3):c.683T>C (p.Met228Thr)
NM_000070.3(CAPN3):c.720dup (p.Ile241fs) rs1555420639
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.802-221G>A rs2412709
NM_000070.3(CAPN3):c.839G>T (p.Gly280Val) rs2548262112
NM_000070.3(CAPN3):c.856T>G (p.Leu286Val) rs2141170359
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter) rs750443041
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995

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