ClinVar Miner

List of variants in gene PHEX reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0
NM_000444.6(PHEX):c.1046dup (p.Asp349fs) rs1057517792
NM_000444.6(PHEX):c.1079+1G>A rs886039583
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1080-2A>G rs886041358
NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter) rs1064796942
NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter) rs886041357
NM_000444.6(PHEX):c.1173+1G>C rs1064793227
NM_000444.6(PHEX):c.1173+2T>C rs1057517896
NM_000444.6(PHEX):c.1174-2A>G rs1064796927
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter) rs1057517793
NM_000444.6(PHEX):c.1202del (p.Pro401fs) rs1064793847
NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter) rs886039745
NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter) rs886039584
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter) rs1416252114
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1309dup (p.Glu437fs) rs886041588
NM_000444.6(PHEX):c.134T>A (p.Leu45Ter) rs886039661
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter) rs886039585
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter) rs886041360
NM_000444.6(PHEX):c.1483-1G>A rs1057517794
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) rs1064794303
NM_000444.6(PHEX):c.1525del (p.Thr509fs) rs1064793461
NM_000444.6(PHEX):c.152_162del (p.Gln51fs) rs1064793526
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.154G>T (p.Glu52Ter) rs886041626
NM_000444.6(PHEX):c.1586+1G>T rs1064796928
NM_000444.6(PHEX):c.1586+2T>A rs1057518377
NM_000444.6(PHEX):c.1586_1586+1del rs886041362
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_000444.6(PHEX):c.1593dup (p.Thr532fs) rs1556091873
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.221_222del (p.Val74fs) rs886039580
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter) rs1085307642
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) rs140678356
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter) rs1057517787
NM_000444.6(PHEX):c.436+1G>A rs1057517788
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter) rs886042025
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter) rs1057517789
NM_000444.6(PHEX):c.503C>T (p.Pro168Leu) rs1057517790
NM_000444.6(PHEX):c.508_529del (p.Leu170fs) rs886041680
NM_000444.6(PHEX):c.538del (p.Trp180fs) rs886039581
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter) rs1057521143
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.617T>A (p.Leu206Ter) rs886041694
NM_000444.6(PHEX):c.617T>G (p.Leu206Trp) rs886041694
NM_000444.6(PHEX):c.663+1G>A rs1556020845
NM_000444.6(PHEX):c.663+1_663+45del rs1064796303
NM_000444.6(PHEX):c.663+2T>A rs1057518348
NM_000444.6(PHEX):c.664-1G>A rs886041529
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter) rs948246694
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.682dup (p.Ser228fs) rs1131691812
NM_000444.6(PHEX):c.733-1G>A rs886041223
NM_000444.6(PHEX):c.733-2A>T rs886041496
NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer) rs886041569
NM_000444.6(PHEX):c.779dup (p.Leu260fs) rs886041569
NM_000444.6(PHEX):c.847_849+2del rs886041681
NM_000444.6(PHEX):c.849+1G>A rs1057521144
NM_000444.6(PHEX):c.850del (p.Glu283_Ile284insTer) rs886039582
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.883del (p.Ala295fs) rs1057517791
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter) rs886041853
NM_000444.6(PHEX):c.985dup (p.His329fs) rs1556025994

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