ClinVar Miner

List of variants reported as pathogenic for Hypertrophic cardiomyopathy 17 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)	rs387906897	0.00001
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)	rs387906898	0.00001
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)	rs1600482909

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