ClinVar Miner

List of variants studied for Familial X-linked hypophosphatemic vitamin D refractory rickets by Illumina Clinical Services Laboratory,Illumina

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Total variants: 45
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HGVS dbSNP
NM_000444.6(PHEX):c.*218A>C rs141594056
NM_000444.6(PHEX):c.*227C>G rs765787001
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*305G>A rs0
NM_000444.6(PHEX):c.*339A>G rs773553690
NM_000444.6(PHEX):c.*360A>C rs1012718966
NM_000444.6(PHEX):c.*361T>C rs182654518
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000444.6(PHEX):c.*48G>A rs765479131
NM_000444.6(PHEX):c.*58C>T rs0
NM_000444.6(PHEX):c.-108A>G rs149541983
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs0
NM_000444.6(PHEX):c.-126C>G rs0
NM_000444.6(PHEX):c.-33C>T rs5951494
NM_000444.6(PHEX):c.-90A>G rs178710
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.118+7G>T rs534550003
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437
NM_000444.6(PHEX):c.1483-7T>C rs0
NM_000444.6(PHEX):c.1586+14A>T rs0
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112
NM_000444.6(PHEX):c.1769-10C>T rs3752433
NM_000444.6(PHEX):c.1966-11T>C rs12014792
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs0
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs0
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs0
NM_000444.6(PHEX):c.690C>T (p.Ala230=) rs0
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893
NM_000444.6(PHEX):c.849+3A>G rs200585038
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521

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