ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_020433.5(JPH2):c.379+12T>G rs763058686 0.00023
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
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.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 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
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358

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