ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by KardioGenetik, Herz- und Diabeteszentrum NRW

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_001458.5(FLNC):c.517G>T (p.Val173Leu) rs376235207 0.00005
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys) rs1335627502 0.00005
NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg) rs748351352 0.00005
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly) rs780733773 0.00003
NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu) rs199473301 0.00002
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu) rs761545914 0.00001
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) rs749236817 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_000256.3(MYBPC3):c.2149-3C>G
NM_000257.4(MYH7):c.1894_1896del (p.Glu632del)
NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val) rs730880802
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001077653.2(TBX20):c.545+5G>A
NM_001103.4(ACTN2):c.1034del (p.Phe345fs)
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
NM_001267550.2(TTN):c.33501AGA[7] (p.Glu11172_Tyr11173insGluGlu)
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
NM_001276345.2(TNNT2):c.852-3C>T rs749454768
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
NM_001943.5(DSG2):c.216+2T>C
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
NM_005159.5(ACTC1):c.189G>C (p.Lys63Asn)
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn) rs727504308
NM_015978.3(TNNI3K):c.731G>T (p.Arg244Leu)
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_024422.6(DSC2):c.776-3T>C rs752192642
NM_144573.4(NEXN):c.646C>T (p.Arg216Ter) rs763730619
NM_170707.4(LMNA):c.1070A>C (p.Asp357Ala)

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