ClinVar Miner

List of variants reported as likely pathogenic by Agnes Ginges Centre for Molecular Cardiology,Centenary Institute

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Total variants: 13
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HGVS dbSNP
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000335.4(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000364.4(TNNT2):c.854G>C (p.Arg285Pro) rs397516484
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_172056.2(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794

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