ClinVar Miner

List of variants studied for X-linked dominant hypophosphatemic rickets by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
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.*218A>C rs141594056 0.00645
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_000444.6(PHEX):c.*227C>G rs765787001 0.00033
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 0.00014
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs200733697 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 0.00009
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
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.*305G>A rs189715720 0.00002
NM_000444.6(PHEX):c.*48G>A rs765479131 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.*388A>G rs759086924
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843

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