ClinVar Miner

List of variants reported as likely pathogenic for Restrictive cardiomyopathy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_001267550.2(TTN):c.71866del (p.Ile23956fs)
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe) rs1808685364
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6892C>T (p.Pro2298Ser) rs1554401403

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