ClinVar Miner

List of variants studied for cardiomyopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.5283+1G>A rs775803553 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg) rs1885702697 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) rs1384892917 0.00001
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys) rs730880693
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu) rs2138683978
NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro) rs2061232697
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001103.4(ACTN2):c.1412T>C (p.Leu471Pro)
NM_001122630.2(CDKN1C):c.832_835delinsCTGCGCCTGA (p.Gly278_Asp279delinsLeuArgLeuAsn)
NM_001276345.2(TNNT2):c.375del (p.Glu126fs) rs560019679
NM_001281740.3(FHOD3):c.172G>C (p.Asp58His)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) rs1265809314
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_003239.5(TGFB3):c.785G>T (p.Gly262Val) rs1595339233
NM_004006.3(DMD):c.1603-2A>T rs773779441
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3786+5G>C
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) rs1404513559
NM_020778.5(ALPK3):c.1501del (p.Ser501fs) rs2141557313
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016

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