ClinVar Miner

List of variants in gene PHEX studied for not specified

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493 0.00746
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.1482+16A>C rs376298942 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521 0.00012
NM_000444.6(PHEX):c.505G>A (p.Val169Met) rs187824835 0.00009
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.1461T>C (p.His487=) rs765101791 0.00005
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn) rs373235530 0.00002
NM_000444.6(PHEX):c.1030_1038del (p.Pro344_Tyr346del) rs1556026030
NM_000444.6(PHEX):c.1174-10_1174-1del
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.188-2A>C
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.292dup (p.Met98fs)
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.436+19T>G rs1057523486
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.846del (p.Glu283fs)
NM_000444.6(PHEX):c.850-15A>C
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868

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