ClinVar Miner

List of variants in gene JPH2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358

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