ClinVar Miner

List of variants in gene PHEX reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.1328G>A (p.Arg443His) rs1285918997 0.00001
NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1645+6T>A rs1556092037
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp) rs1556014284
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) rs1064797048
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.505G>C (p.Val169Leu) rs187824835
NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe) rs2146974307
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976

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