ClinVar Miner

List of variants in gene JPH2 reported as uncertain significance by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595

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