ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Research Unit of Cardiovascular and Metabolic Disease, Inserm

Included ClinVar conditions (570):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4351A>G (p.Lys1451Glu) rs2502251387
NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr) rs2061094546
NM_000335.5(SCN5A):c.528dup (p.Leu177fs) rs2471839050
NM_001267550.2(TTN):c.100555_100571del (p.Val33519fs) rs2468608636
NM_001267550.2(TTN):c.102946del (p.Tyr34316fs) rs2468503205
NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter) rs548677252
NM_001267550.2(TTN):c.14334T>G (p.Tyr4778Ter) rs2530525965
NM_001267550.2(TTN):c.3780T>G (p.Tyr1260Ter) rs956832626
NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter) rs2471414967
NM_001267550.2(TTN):c.46630del (p.Arg15544fs) rs2470970373
NM_001267550.2(TTN):c.46759del (p.Met15587fs) rs2470916820
NM_001267550.2(TTN):c.47784del (p.Asn15928fs) rs2470838784
NM_001267550.2(TTN):c.51129dup (p.Val17044fs) rs2470469852
NM_001267550.2(TTN):c.51302del (p.Glu17101fs) rs2470430025
NM_001267550.2(TTN):c.53606del (p.Leu17869fs) rs2470202787
NM_001267550.2(TTN):c.56892dup (p.Ala18965fs) rs2469863831
NM_001267550.2(TTN):c.59186_59188delinsCTTCT (p.Arg19729fs) rs2469554208
NM_001267550.2(TTN):c.64259dup (p.Val21421fs) rs2469244230
NM_001267550.2(TTN):c.65819dup (p.Asn21940fs) rs2469061178
NM_001267550.2(TTN):c.67875_67876dup (p.Lys22626fs) rs2468870221
NM_001267550.2(TTN):c.70045G>T (p.Glu23349Ter) rs397517682
NM_001267550.2(TTN):c.72431G>A (p.Trp24144Ter) rs2468596371
NM_001267550.2(TTN):c.74242del (p.Thr24748fs) rs2468512494
NM_001267550.2(TTN):c.74370_74373dup (p.Asn24792delinsAspTer) rs2468507425
NM_001267550.2(TTN):c.74560del (p.Thr24854fs) rs2468499601
NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs) rs2468309520
NM_001267550.2(TTN):c.8023A>T (p.Arg2675Ter) rs375223745
NM_001267550.2(TTN):c.80398dup (p.Met26800fs) rs2468257991
NM_001267550.2(TTN):c.80413del (p.Glu26805fs) rs2468257150
NM_001267550.2(TTN):c.83340_83341delinsTTT (p.Lys27780fs) rs2468135575
NM_001267550.2(TTN):c.84757del (p.Cys28253fs) rs2469690862
NM_001267550.2(TTN):c.86168del (p.Phe28723fs) rs2469640549
NM_001267550.2(TTN):c.86821+1G>C rs1702741860
NM_001267550.2(TTN):c.87706+1G>C rs2469539180
NM_001267550.2(TTN):c.91613_91620del (p.Ile30538fs) rs2469191842
NM_001267550.2(TTN):c.95416+4_95416+7del rs2469022744
NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter) rs2468889895
NM_001276345.2(TNNT2):c.630G>C (p.Lys210Asn) rs1658734768
NM_001276345.2(TNNT2):c.652A>G (p.Lys218Glu) rs2526941929
NM_001458.5(FLNC):c.2785_2786del (p.Thr929fs) rs2536634026
NM_002230.4(JUP):c.1291_1292del (p.Gln431fs) rs2544109091
NM_004415.4(DSP):c.2614A>T (p.Lys872Ter) rs2533909271
NM_004415.4(DSP):c.3617del (p.Asn1205_Leu1206insTer) rs2533924886

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