ClinVar Miner

List of variants reported as uncertain significance for Familial X-linked hypophosphatemic vitamin D refractory rickets by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.*227C>G rs765787001 0.00031
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 0.00014
NM_000444.6(PHEX):c.690C>T (p.Ala230=) rs149487757 0.00014
NM_000444.6(PHEX):c.*339A>G rs773553690 0.00012
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521 0.00012
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00008
NM_000444.6(PHEX):c.*360A>C rs1012718966 0.00005
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs371825581 0.00003
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141 0.00002
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842 0.00001
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843

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