ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000257.4(MYH7):c.2649G>T (p.Glu883Asp) rs140434009
NM_001035.3(RYR2):c.1600T>C (p.Tyr534His) rs376007579
NM_001267550.2(TTN):c.31462G>A (p.Glu10488Lys) rs1553860513
NM_004006.3(DMD):c.31+4A>G rs1557300092
NM_020297.4(ABCC9):c.52G>A (p.Gly18Ser) rs1322335430

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