ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Genetics and Molecular Pathology, SA Pathology

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) rs773456019 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs) rs1703415128
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910

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