ClinVar Miner

List of variants in gene PHEX reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_000444.6(PHEX):c.1302+277G>A rs6528091 0.40285
NM_000444.6(PHEX):c.1586+287G>T rs7881294 0.24625
NM_000444.6(PHEX):c.1080-73C>T rs4824224 0.22096
NM_000444.6(PHEX):c.1482+271G>A rs73636814 0.20941
NM_000444.6(PHEX):c.188-291T>G rs178719 0.19177
NM_000444.6(PHEX):c.118+317T>C rs5951685 0.17749
NM_000444.6(PHEX):c.1174-286G>A rs10218272 0.17340
NM_000444.6(PHEX):c.188-47C>T rs178720 0.17091
NM_000444.6(PHEX):c.1174-218T>G rs10217954 0.15562
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_000444.6(PHEX):c.1645+174T>G rs2071583 0.11891
NM_000444.6(PHEX):c.1079+213T>C rs45541842 0.10369
NM_000444.6(PHEX):c.733-189G>A rs6528089 0.09431
NM_000444.6(PHEX):c.933+41A>G rs58524357 0.09168
NM_000444.6(PHEX):c.933+286G>A rs73636804 0.08955
NM_000444.6(PHEX):c.664-124G>C rs12013780 0.08886
NM_000444.6(PHEX):c.849+128G>A rs6629449 0.08782
NM_000444.6(PHEX):c.934-217A>C rs7052268 0.07744
NM_000444.6(PHEX):c.849+1049T>C rs73635602 0.07640
NM_000444.6(PHEX):c.437-208A>G rs57027136 0.07450
NM_000444.6(PHEX):c.1079+279C>T rs7882590 0.06506
NM_000444.6(PHEX):c.1645+110G>T rs16981826 0.05979
NM_000444.6(PHEX):c.1483-211G>T rs41311821 0.04153
NM_000444.6(PHEX):c.1645+169C>T rs113381174 0.02602
NM_000444.6(PHEX):c.187+223G>A rs141733180 0.01979
NM_000444.6(PHEX):c.1174-307T>C rs143973252 0.01964
NM_000444.6(PHEX):c.436+230G>C rs112329519 0.01548
NM_000444.6(PHEX):c.850-169T>C rs143750363 0.01482
NM_000444.6(PHEX):c.349+170A>G rs139431328 0.01142
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_000444.6(PHEX):c.1645+302T>C rs5951720 0.00929
NM_000444.6(PHEX):c.1080-173G>A rs146703869 0.00910
NM_000444.6(PHEX):c.1587-266T>A rs2071582 0.00842
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.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000444.6(PHEX):c.1482+16A>C rs376298942 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.505G>A (p.Val169Met) rs187824835 0.00009
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.1461T>C (p.His487=) rs765101791 0.00005
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000444.6(PHEX):c.1328G>A (p.Arg443His) rs1285918997 0.00001
NM_000444.6(PHEX):c.1515C>T (p.Asn505=) rs764771688 0.00001
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
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.118+286del rs3216804
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.1268T>C (p.Val423Ala)
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1309dup (p.Glu437fs) rs886041588
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) rs1057517904
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
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.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly) rs1085308012
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter) rs886041360
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1483-1G>A rs1057517794
NM_000444.6(PHEX):c.1483-312= rs5951715
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+6T>G rs1057518214
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+187dup rs202159277
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645+212A>G rs16981831
NM_000444.6(PHEX):c.1645+5G>C rs1085307522
NM_000444.6(PHEX):c.1645+6T>A rs1556092037
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.251C>A (p.Ala84Asp) rs1556014284
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter) rs1085307642
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.399G>A (p.Gln133=) rs1602273860
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) rs140678356
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) rs1064797048
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter) rs1057517787
NM_000444.6(PHEX):c.436+19T>G rs1057523486
NM_000444.6(PHEX):c.436+1G>A rs1057517788
NM_000444.6(PHEX):c.436+1G>C rs1057517788
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter) rs886042025
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
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.505G>C (p.Val169Leu) rs187824835
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.611T>A (p.Ile204Asn) rs1085307950
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.64_65delinsTT (p.Ala22Phe) rs2146974307
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.664-2A>C rs1131692026
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.758TGG[1] (p.Val254del) rs1064796391
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.850-2A>G rs1064793226
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.914T>G (p.Leu305Arg) rs1064796929
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter) rs886041853
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.985dup (p.His329fs) rs1556025994

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