ClinVar Miner

List of variants reported as uncertain significance for Familial X-linked hypophosphatemic vitamin D refractory rickets

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ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00037
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.185C>T (p.Ala62Val) rs145393882 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.1031C>T (p.Pro344Leu) rs866640200 0.00005
NM_000444.6(PHEX):c.1141C>T (p.Arg381Cys) rs932260939 0.00005
NM_000444.6(PHEX):c.2188G>T (p.Ala730Ser) rs752729907 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.352C>T (p.Leu118Phe) rs772238348 0.00002
NM_000444.6(PHEX):c.386C>G (p.Thr129Ser) rs936060620 0.00002
NM_000444.6(PHEX):c.933+5G>C rs1930172991 0.00002
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile) rs766990714 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842 0.00001
NM_000444.6(PHEX):c.403G>A (p.Ala135Thr) rs1037767064 0.00001
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)
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.1039T>A (p.Phe347Ile)
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg) rs1930965902
NM_000444.6(PHEX):c.1142G>A (p.Arg381His)
NM_000444.6(PHEX):c.1174-3C>G rs1446526598
NM_000444.6(PHEX):c.118+20C>T
NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser) rs767652424
NM_000444.6(PHEX):c.1228A>G (p.Ile410Val)
NM_000444.6(PHEX):c.1253T>C (p.Val418Ala)
NM_000444.6(PHEX):c.1448T>C (p.Met483Thr) rs2518593174
NM_000444.6(PHEX):c.1452T>A (p.Asn484Lys)
NM_000444.6(PHEX):c.1498_1499delinsAA (p.Ala500Asn)
NM_000444.6(PHEX):c.1501G>T (p.Asp501Tyr)
NM_000444.6(PHEX):c.1529G>A (p.Arg510His)
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.1645+3G>C rs2518621903
NM_000444.6(PHEX):c.1646-3T>C
NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr) rs1057520756
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000444.6(PHEX):c.176G>T (p.Cys59Phe)
NM_000444.6(PHEX):c.1784A>G (p.Lys595Arg)
NM_000444.6(PHEX):c.1808G>C (p.Trp603Ser)
NM_000444.6(PHEX):c.1819T>A (p.Ser607Thr)
NM_000444.6(PHEX):c.1874A>G (p.Tyr625Cys)
NM_000444.6(PHEX):c.1931T>C (p.Ile644Thr) rs1391338664
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp) rs2518674832
NM_000444.6(PHEX):c.1965+3A>T
NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys) rs2147184646
NM_000444.6(PHEX):c.2009A>T (p.Glu670Val) rs2147184651
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys) rs1556151526
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2120T>C (p.Ile707Thr)
NM_000444.6(PHEX):c.2148-10C>A rs748578936
NM_000444.6(PHEX):c.2148-11T>A
NM_000444.6(PHEX):c.2148-18T>A
NM_000444.6(PHEX):c.2207A>T (p.Asn736Ile)
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu) rs2147217463
NM_000444.6(PHEX):c.261C>T (p.Gly87=)
NM_000444.6(PHEX):c.388G>A (p.Glu130Lys)
NM_000444.6(PHEX):c.436+5G>A rs1602273945
NM_000444.6(PHEX):c.481C>T (p.Arg161Trp)
NM_000444.6(PHEX):c.491C>G (p.Pro164Arg)
NM_000444.6(PHEX):c.497G>A (p.Arg166His)
NM_000444.6(PHEX):c.515C>T (p.Ser172Phe)
NM_000444.6(PHEX):c.587G>T (p.Gly196Val)
NM_000444.6(PHEX):c.670C>A (p.Gln224Lys)
NM_000444.6(PHEX):c.672A>T (p.Gln224His)
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.724G>A (p.Ala242Thr)
NM_000444.6(PHEX):c.748T>C (p.Tyr250His)
NM_000444.6(PHEX):c.850A>T (p.Ile284Leu)
NM_000444.6(PHEX):c.884C>G (p.Ala295Gly)
NM_000444.6(PHEX):c.887T>C (p.Met296Thr) rs1451534281
NM_000444.6(PHEX):c.918T>A (p.Ser306Arg)
NM_000444.6(PHEX):c.954C>G (p.Ile318Met)
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.974G>C (p.Arg325Thr) rs1475486575
NM_000444.6(PHEX):c.979T>C (p.Tyr327His)

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