ClinVar Miner

List of variants in gene CAPN3 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1801-188A>G rs16952474 0.03802
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000070.3(CAPN3):c.1193+243C>T rs28364469 0.03336
NM_000070.3(CAPN3):c.1536+235C>T rs28364492 0.01755
NM_000070.3(CAPN3):c.1029+198C>T rs28364443 0.01597
NM_000070.3(CAPN3):c.1915-127C>T rs28364531 0.01403
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
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.946-187G>A rs28364440 0.01142
NM_000070.3(CAPN3):c.1524+81C>T rs28364486 0.01086
NM_000070.3(CAPN3):c.2051-29C>T rs146599748 0.01058
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.2050+26T>G rs748546059 0.00929
NM_000070.3(CAPN3):c.309+32T>C rs576780026 0.00923
NM_000070.3(CAPN3):c.309+30_309+31insG rs377626958 0.00922
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 0.00793
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
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.1914+310G>A rs28364529 0.00333
NM_000070.3(CAPN3):c.2264-97C>T rs142261118 0.00324
NM_000070.3(CAPN3):c.1782+223A>G rs141693768 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000070.3(CAPN3):c.1915-35C>A rs180926729 0.00315
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00167
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
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.246G>A (p.Pro82=) rs146529432 0.00034
NM_000070.3(CAPN3):c.294C>G (p.Val98=) rs147493037 0.00034
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 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.945+15G>A rs567256305 0.00010
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000070.3(CAPN3):c.499-13C>T rs201344810 0.00006
NM_000070.3(CAPN3):c.2079A>G (p.Thr693=) rs540561728 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=) rs372968945 0.00004
NM_000070.3(CAPN3):c.-25G>C rs1405523432 0.00003
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914 0.00002
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.1115+181C>A rs28364457
NM_000070.3(CAPN3):c.1194-26CT[4] rs367976885
NM_000070.3(CAPN3):c.1355-166C>G rs74919029
NM_000070.3(CAPN3):c.1525-16T>G rs1555422168
NM_000070.3(CAPN3):c.1701G>A (p.Gly567=) rs1595838740
NM_000070.3(CAPN3):c.1746-189G>A rs28364499
NM_000070.3(CAPN3):c.1782+306G>T rs138407929
NM_000070.3(CAPN3):c.1783-989A>C rs28364501
NM_000070.3(CAPN3):c.1801-304dup rs367758932
NM_000070.3(CAPN3):c.1801-306_1801-304del rs367758932
NM_000070.3(CAPN3):c.2116-181C>T rs28364535
NM_000070.3(CAPN3):c.2440-47G>T rs201396957
NM_000070.3(CAPN3):c.2440-50_2440-49insC rs200202467
NM_000070.3(CAPN3):c.309+267_309+268dup rs397962506
NM_000070.3(CAPN3):c.309+268del rs397962506
NM_000070.3(CAPN3):c.379+216G>C rs28364389

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