ClinVar Miner

List of variants in gene JPH2 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 0.00001
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu) rs1378737709 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.1090C>T (p.Gln364Ter) rs794729024
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997

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