ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 26 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.1102G>A (p.Val368Met) rs781718076 0.00010
NM_001458.5(FLNC):c.2599G>A (p.Ala867Thr) rs772127988 0.00001
NM_001458.5(FLNC):c.7201G>A (p.Val2401Met) rs868744958 0.00001
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser) rs1461903090
NM_001458.5(FLNC):c.3527T>G (p.Phe1176Cys)
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) rs754533053
NM_001458.5(FLNC):c.4642G>C (p.Gly1548Arg)
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu) rs778021239
NM_001458.5(FLNC):c.6149_6150dup (p.Leu2051fs)
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met) rs1207179287
NM_001458.5(FLNC):c.86C>A (p.Ala29Glu)

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