ClinVar Miner

List of variants studied for cardiomyopathy by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00003
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_001985.3(ETFB):c.58-57C>T rs766066977 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_020778.4(ALPK3):c.5019del rs2141573290
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) rs1567972995

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