ClinVar Miner

List of variants studied for cardiomyopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter) rs771262904 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000256.3(MYBPC3):c.2149-1G>T rs727504334
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000363.5(TNNI3):c.206G>A (p.Arg69His) rs1401968020
NM_001103.4(ACTN2):c.229G>T (p.Glu77Ter) rs1572112489
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) rs1060499712
NM_001267550.2(TTN):c.46304+6C>T rs772406721
NM_001267550.2(TTN):c.48426T>A (p.Tyr16142Ter) rs1576476485
NM_002834.5(PTPN11):c.854-14T>A rs2038526676
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter) rs754529157

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.