ClinVar Miner

List of variants in gene CAPN3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
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.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=) rs372450879 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914 0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=) rs367855757 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.801+8_801+9del rs764551615 0.00002
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu) rs774834498 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.2182C>T (p.Gln728Ter) rs2054180829 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
GRCh37/hg19 15q15.1(chr15:42684837-42686539)x1
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1307G>T (p.Gly436Val) rs2141193879
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs) rs2141199752
NM_000070.3(CAPN3):c.1485del (p.Ala497fs) rs1595837172
NM_000070.3(CAPN3):c.1504_1505del (p.Ile502fs) rs2141199913
NM_000070.3(CAPN3):c.1675T>C (p.Ser559Pro) rs1595838688
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1795A>G (p.Thr599Ala) rs1555422576
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2116-9_2116-6del
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.326C>A (p.Pro109His) rs2141155515
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.379+5G>T rs886042704
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.632+1G>A rs2053447095
NM_000070.3(CAPN3):c.700G>T (p.Gly234Trp) rs886042440
NM_000070.3(CAPN3):c.742A>G (p.Met248Val)
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.859A>C (p.Ile287Leu) rs1595823793
NM_000070.3(CAPN3):c.946-2A>G rs1595826673

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.