ClinVar Miner

List of variants in gene PHEX reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 386
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_22050695)_(22132724_?)del
NC_000023.10:g.(?_22050695)_(22266301_?)del
NC_000023.10:g.(?_22065168)_(22132704_?)dup
NC_000023.10:g.(?_22094486)_(22115176_?)dup
NC_000023.10:g.(?_22094486)_(22132724_?)del
NC_000023.10:g.(?_22094486)_(22151761_?)del
NC_000023.10:g.(?_22094486)_(22266301_?)del
NC_000023.10:g.(?_22094506)_(22108615_?)del
NC_000023.10:g.(?_22108527)_(22108635_?)del
NC_000023.10:g.(?_22112081)_(22117289_?)del
NC_000023.10:g.(?_22113485)_(22117289_?)del
NC_000023.10:g.(?_22129565)_(22132724_?)del
NC_000023.10:g.(?_22132556)_(22132724_?)del
NC_000023.10:g.(?_22132585)_(22140843_?)del
NC_000023.10:g.(?_22151620)_(22151761_?)del
NC_000023.10:g.(?_22151620)_(22208639_?)dup
NC_000023.10:g.(?_22151640)_(22151741_?)dup
NC_000023.10:g.(?_22186409)_(22186526_?)del
NC_000023.10:g.(?_22186409)_(22208639_?)del
NC_000023.10:g.(?_22186409)_(22266301_?)del
NC_000023.10:g.(?_22196370)_(22196513_?)del
NC_000023.10:g.(?_22208541)_(22208639_?)del
NC_000023.10:g.(?_22231001)_(22231095_?)del
NC_000023.10:g.(?_22231021)_(22245728_?)del
NC_000023.10:g.(?_22237133)_(22239880_?)del
NC_000023.10:g.(?_22237153)_(22245728_?)del
NC_000023.10:g.(?_22239710)_(22239880_?)del
NC_000023.10:g.(?_22239710)_(22245748_?)del
NC_000023.10:g.(?_22244540)_(22244645_?)del
NC_000023.10:g.(?_22244540)_(22245748_?)del
NC_000023.10:g.(?_22245604)_(22245748_?)del
NC_000023.10:g.(?_22263430)_(22263546_?)del
NC_000023.10:g.(?_22263430)_(22266301_?)del
NC_000023.10:g.(?_22265948)_(22266301_?)del
NC_000023.10:g.(?_22265969)_(22266663_?)del
NC_000023.11:g.(?_22007157)_(22038537_?)del
NC_000023.11:g.(?_22033006)_(22033123_?)del
NC_000023.11:g.(?_22033006)_(22047211_?)del
NC_000023.11:g.(?_22033006)_(22077702_?)del
NC_000023.11:g.(?_22076388)_(22076474_?)del
NC_000023.11:g.(?_22076388)_(22077702_?)del
NC_000023.11:g.(?_22111467)_(22114586_?)del
NC_000023.11:g.(?_22114458)_(22114586_?)del
NC_000023.11:g.(?_22133523)_(22133624_?)del
NC_000023.11:g.(?_22168312)_(22247953_?)del
NC_000023.11:g.(?_22178273)_(22178376_?)del
NC_000023.11:g.(?_22178273)_(22190502_?)del
NC_000023.11:g.(?_22190444)_(22190502_?)del
NC_000023.11:g.(?_22190444)_(22227611_?)del
NC_000023.11:g.(?_22212904)_(22212958_?)del
NC_000023.11:g.(?_22219036)_(22221743_?)del
NC_000023.11:g.(?_22219036)_(22247953_?)del
NM_000444.6(PHEX):c.1009G>T (p.Glu337Ter) rs770491624
NM_000444.6(PHEX):c.1019del (p.Val340fs)
NM_000444.6(PHEX):c.1021del (p.Val341fs) rs1930300418
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter) rs1569391212
NM_000444.6(PHEX):c.1036T>G (p.Tyr346Asp)
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.103_104del (p.Thr35fs) rs1926874291
NM_000444.6(PHEX):c.1046dup (p.Asp349fs) rs1057517792
NM_000444.6(PHEX):c.1050del (p.Leu350fs)
NM_000444.6(PHEX):c.1052_1053insAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATTTGTT (p.Phe351delinsLeuAspIleProAsnAlaArgTer) rs2147047486
NM_000444.6(PHEX):c.1053_1077dup (p.Lys360Ter) rs2147047519
NM_000444.6(PHEX):c.1059del (p.Ile353_Leu354insTer) rs2147047536
NM_000444.6(PHEX):c.1065del (p.Ser356fs)
NM_000444.6(PHEX):c.1076del (p.Lys359fs)
NM_000444.6(PHEX):c.1079+1G>A rs886039583
NM_000444.6(PHEX):c.1079+1G>T rs886039583
NM_000444.6(PHEX):c.1079+2T>G rs2147047585
NM_000444.6(PHEX):c.1079+2_1079+5del rs2147047571
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1080-2A>G rs886041358
NM_000444.6(PHEX):c.1080-3C>G rs1930961231
NM_000444.6(PHEX):c.1087G>C (p.Ala363Pro) rs2147061892
NM_000444.6(PHEX):c.1102del (p.Trp368fs)
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) rs1556029499
NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter) rs1930963615
NM_000444.6(PHEX):c.1105A>T (p.Arg369Ter) rs1930963832
NM_000444.6(PHEX):c.1109T>G (p.Met370Arg) rs1930964041
NM_000444.6(PHEX):c.1116T>A (p.Tyr372Ter) rs1930964729
NM_000444.6(PHEX):c.1137_1149del (p.Arg380fs) rs2147061992
NM_000444.6(PHEX):c.1137del (p.Ser379fs)
NM_000444.6(PHEX):c.1138del (p.Arg380fs) rs2147062018
NM_000444.6(PHEX):c.1138dup (p.Arg380fs) rs1930967080
NM_000444.6(PHEX):c.1142_1143del (p.Arg381fs)
NM_000444.6(PHEX):c.1146del (p.Gln383fs) rs1930968296
NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter) rs1064796942
NM_000444.6(PHEX):c.1152T>G (p.Tyr384Ter) rs2147062072
NM_000444.6(PHEX):c.1152_1153del (p.Tyr384_Arg385delinsTer)
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter) rs886041357
NM_000444.6(PHEX):c.1168del (p.Ser390fs) rs2147062104
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1173+1G>C rs1064793227
NM_000444.6(PHEX):c.1173+1G>T rs1064793227
NM_000444.6(PHEX):c.1173+1del rs1930970613
NM_000444.6(PHEX):c.1173+2T>C rs1057517896
NM_000444.6(PHEX):c.1173+5G>T
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.1174-2A>G rs1064796927
NM_000444.6(PHEX):c.1174-2A>T
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter) rs1057517793
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs) rs1602307030
NM_000444.6(PHEX):c.1185del (p.Thr396fs) rs1602307030
NM_000444.6(PHEX):c.1196dup (p.Leu399fs)
NM_000444.6(PHEX):c.1202del (p.Pro401fs) rs1064793847
NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter) rs886039745
NM_000444.6(PHEX):c.1206del (p.Gln402fs) rs2147065629
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter) rs886039584
NM_000444.6(PHEX):c.1210del (p.Asp404fs) rs2147065642
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter) rs1416252114
NM_000444.6(PHEX):c.1224del (p.Phe409fs) rs1931146041
NM_000444.6(PHEX):c.1229_1232del (p.Ile410fs) rs2147065695
NM_000444.6(PHEX):c.1237G>C (p.Ala413Pro) rs1931147505
NM_000444.6(PHEX):c.1240del (p.Leu414fs)
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.124del (p.Gln42fs) rs1927126429
NM_000444.6(PHEX):c.1282C>T (p.Gln428Ter) rs2147065777
NM_000444.6(PHEX):c.1283del (p.Gln428fs)
NM_000444.6(PHEX):c.1292del (p.Lys431fs)
NM_000444.6(PHEX):c.1302+1G>A rs1131691841
NM_000444.6(PHEX):c.1302+1G>C rs1131691841
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1303-1G>A rs1556036014
NM_000444.6(PHEX):c.1303-2A>G
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1309dup (p.Glu437fs) rs886041588
NM_000444.6(PHEX):c.1313del (p.Leu438fs) rs1932102521
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
NM_000444.6(PHEX):c.1332G>A (p.Trp444Ter) rs2147086402
NM_000444.6(PHEX):c.1335del (p.Phe446fs) rs1932104985
NM_000444.6(PHEX):c.1344del (p.Asp448fs)
NM_000444.6(PHEX):c.1345del (p.Met449fs)
NM_000444.6(PHEX):c.134T>A (p.Leu45Ter) rs886039661
NM_000444.6(PHEX):c.134T>G (p.Leu45Ter) rs886039661
NM_000444.6(PHEX):c.134_135insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGTCTCTT (p.Leu45fs) rs2146979498
NM_000444.6(PHEX):c.1357_1358del (p.Glu453fs)
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter) rs886039585
NM_000444.6(PHEX):c.1364del (p.Glu455fs)
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1368G>A (p.Trp456Ter) rs886043680
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg) rs374873766
NM_000444.6(PHEX):c.1387del (p.Arg463fs) rs1932109241
NM_000444.6(PHEX):c.1387dup (p.Arg463fs) rs1932109241
NM_000444.6(PHEX):c.1390_1404+1del rs2147086549
NM_000444.6(PHEX):c.1398dup (p.Glu467fs) rs2147086570
NM_000444.6(PHEX):c.1399G>T (p.Glu467Ter) rs1932110045
NM_000444.6(PHEX):c.1400_1404del (p.Glu467fs) rs1932109848
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1403A>C (p.Lys468Thr) rs1932110651
NM_000444.6(PHEX):c.1404+2_1404+6del rs2147086590
NM_000444.6(PHEX):c.1404G>T (p.Lys468Asn)
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal) rs1933405005
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter) rs886041360
NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs) rs2147118758
NM_000444.6(PHEX):c.1461del (p.His487fs)
NM_000444.6(PHEX):c.1479del (p.Ala494fs)
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1482+1G>C rs1064793228
NM_000444.6(PHEX):c.1482+1G>T rs1064793228
NM_000444.6(PHEX):c.1482+2T>G rs1933408913
NM_000444.6(PHEX):c.1482+3A>C rs1933409121
NM_000444.6(PHEX):c.1482+5G>C rs1269067103
NM_000444.6(PHEX):c.1483-1G>A rs1057517794
NM_000444.6(PHEX):c.1483-1G>C rs1057517794
NM_000444.6(PHEX):c.1495G>T (p.Glu499Ter)
NM_000444.6(PHEX):c.1506C>G (p.Tyr502Ter) rs1933773048
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) rs1064794303
NM_000444.6(PHEX):c.1525del (p.Thr509fs) rs1064793461
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.152_162del (p.Gln51fs) rs1064793526
NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter) rs753522380
NM_000444.6(PHEX):c.1535del (p.Tyr512fs) rs1933775645
NM_000444.6(PHEX):c.1536T>A (p.Tyr512Ter) rs2147128208
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.1543_1544del (p.Gln515fs) rs2147128222
NM_000444.6(PHEX):c.154G>T (p.Glu52Ter) rs886041626
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1560G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1586+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+1G>C rs1064796928
NM_000444.6(PHEX):c.1586+1G>T rs1064796928
NM_000444.6(PHEX):c.1586+2T>A rs1057518377
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1586_1586+1del rs886041362
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) rs193922455
NM_000444.6(PHEX):c.1590G>A (p.Trp530Ter) rs1556091855
NM_000444.6(PHEX):c.1590del (p.Trp530fs)
NM_000444.6(PHEX):c.1593dup (p.Thr532fs) rs1556091873
NM_000444.6(PHEX):c.15_16del (p.Gly6fs) rs1569364701
NM_000444.6(PHEX):c.1600C>A (p.Pro534Thr) rs2147139052
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.161dup (p.Cys54fs) rs2146979558
NM_000444.6(PHEX):c.1621T>G (p.Tyr541Asp) rs2147139089
NM_000444.6(PHEX):c.1643T>C (p.Ile548Thr)
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645+1G>T
NM_000444.6(PHEX):c.1645+2T>G rs2147139131
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.171del (p.Glu58fs)
NM_000444.6(PHEX):c.177C>A (p.Cys59Ter) rs2146979567
NM_000444.6(PHEX):c.187+1G>A rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.187+2T>A rs1927131178
NM_000444.6(PHEX):c.188-1G>A rs1927567325
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1A>T (p.Met1Leu)
NM_000444.6(PHEX):c.200_201insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCTGCCATCTT (p.Leu67delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_000444.6(PHEX):c.201_202dup (p.Ser68fs) rs1927568383
NM_000444.6(PHEX):c.202dup (p.Ser68fs) rs1927568383
NM_000444.6(PHEX):c.204del (p.Ser68fs) rs1927568868
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.21delinsACTGG (p.Ser7fs) rs1926867009
NM_000444.6(PHEX):c.221_222del (p.Val74fs) rs886039580
NM_000444.6(PHEX):c.227_240del (p.Pro76fs) rs2146987683
NM_000444.6(PHEX):c.230G>A (p.Cys77Tyr) rs1556014263
NM_000444.6(PHEX):c.230G>C (p.Cys77Ser) rs1556014263
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) rs1556014263
NM_000444.6(PHEX):c.239del (p.Phe80fs)
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.255T>A (p.Cys85Ter) rs2146987767
NM_000444.6(PHEX):c.261_264dup (p.Ile89fs)
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter) rs1569369653
NM_000444.6(PHEX):c.264G>A (p.Trp88Ter)
NM_000444.6(PHEX):c.275_280delinsT (p.Asn92fs) rs1927577124
NM_000444.6(PHEX):c.27_28insA (p.Glu10fs) rs1926868266
NM_000444.6(PHEX):c.282del (p.Glu96fs) rs1602251992
NM_000444.6(PHEX):c.295_304del (p.Pro99fs)
NM_000444.6(PHEX):c.2T>C (p.Met1Thr) rs2146974183
NM_000444.6(PHEX):c.304G>A (p.Gly102Arg) rs1927580756
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.307del (p.Val103fs) rs1927580964
NM_000444.6(PHEX):c.30_36del (p.Thr11fs) rs1926867732
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter) rs1085307642
NM_000444.6(PHEX):c.316del (p.Trp106fs) rs2146987897
NM_000444.6(PHEX):c.317G>A (p.Trp106Ter)
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.329dup (p.Asn110fs)
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.349+1G>T rs193922459
NM_000444.6(PHEX):c.349+2T>C rs2146987952
NM_000444.6(PHEX):c.350-1G>C rs2147019098
NM_000444.6(PHEX):c.350-2A>G rs1929150904
NM_000444.6(PHEX):c.356T>G (p.Leu119Trp) rs2147019113
NM_000444.6(PHEX):c.361A>T (p.Lys121Ter) rs2147019118
NM_000444.6(PHEX):c.367del (p.Ile123fs)
NM_000444.6(PHEX):c.373A>T (p.Arg125Ter)
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.3G>T (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.409dup (p.Ile137fs) rs2147019218
NM_000444.6(PHEX):c.411_417del (p.Leu138fs)
NM_000444.6(PHEX):c.413_419dup (p.Ser141fs) rs2147019228
NM_000444.6(PHEX):c.416A>G (p.Tyr139Cys) rs1929155885
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) rs140678356
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.423del (p.Cys142fs) rs2147019260
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) rs1064797048
NM_000444.6(PHEX):c.425G>T (p.Cys142Phe) rs1064797048
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter) rs1057517787
NM_000444.6(PHEX):c.436+1G>A rs1057517788
NM_000444.6(PHEX):c.436+2T>A rs1929158021
NM_000444.6(PHEX):c.436+2_436+3del
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.437-1G>C rs2147020339
NM_000444.6(PHEX):c.437-2A>C rs1929200391
NM_000444.6(PHEX):c.437-2A>G rs1929200391
NM_000444.6(PHEX):c.444del (p.Ile148fs) rs2147020361
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter) rs886042025
NM_000444.6(PHEX):c.455dup (p.Asp152fs) rs2147020395
NM_000444.6(PHEX):c.457dup (p.Ala153fs) rs1929202609
NM_000444.6(PHEX):c.468dup (p.Leu157fs) rs2147020408
NM_000444.6(PHEX):c.481dup (p.Arg161fs) rs1602274746
NM_000444.6(PHEX):c.482G>C (p.Arg161Pro) rs138497409
NM_000444.6(PHEX):c.488C>A (p.Ser163Ter)
NM_000444.6(PHEX):c.49A>T (p.Arg17Ter) rs1926870020
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter) rs1057517789
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
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.539G>A (p.Trp180Ter)
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.551dup (p.Phe185fs) rs1929210900
NM_000444.6(PHEX):c.552del (p.Lys184fs) rs2147020659
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter) rs1057521143
NM_000444.6(PHEX):c.572T>C (p.Leu191Pro)
NM_000444.6(PHEX):c.578del (p.Thr193fs)
NM_000444.6(PHEX):c.587del (p.Gly196fs) rs2147020723
NM_000444.6(PHEX):c.589C>T (p.Gln197Ter)
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593dup (p.Tyr198Ter) rs2147020737
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.616_617del (p.Leu206fs) rs2147020776
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.620_623del (p.Tyr207fs) rs1929215753
NM_000444.6(PHEX):c.643dup (p.Ser215fs) rs2147020850
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) rs1929219058
NM_000444.6(PHEX):c.663+1G>A rs1556020845
NM_000444.6(PHEX):c.663+1G>T rs1556020845
NM_000444.6(PHEX):c.663+1_663+45del rs1064796303
NM_000444.6(PHEX):c.663+1del
NM_000444.6(PHEX):c.663+2T>A rs1057518348
NM_000444.6(PHEX):c.663+2T>C rs1057518348
NM_000444.6(PHEX):c.664-1G>A rs886041529
NM_000444.6(PHEX):c.664-2A>G
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter) rs948246694
NM_000444.6(PHEX):c.67_74del (p.Leu23fs) rs1926871732
NM_000444.6(PHEX):c.67del (p.Leu23fs) rs886043584
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.682dup (p.Ser228fs) rs1131691812
NM_000444.6(PHEX):c.68del (p.Leu23fs) rs1926871899
NM_000444.6(PHEX):c.717_721del (p.Ser239fs) rs2147035547
NM_000444.6(PHEX):c.719del (p.Thr240fs) rs2147035555
NM_000444.6(PHEX):c.724del (p.Ala242fs) rs1929832980
NM_000444.6(PHEX):c.732+1G>A
NM_000444.6(PHEX):c.732+1G>T rs2147035585
NM_000444.6(PHEX):c.733-156_802del
NM_000444.6(PHEX):c.733-1G>A rs886041223
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.733-2A>C rs886041496
NM_000444.6(PHEX):c.733-2A>T rs886041496
NM_000444.6(PHEX):c.735T>G (p.Tyr245Ter)
NM_000444.6(PHEX):c.750C>A (p.Tyr250Ter) rs1322662992
NM_000444.6(PHEX):c.750C>G (p.Tyr250Ter) rs1322662992
NM_000444.6(PHEX):c.750del (p.Leu249_Tyr250insTer) rs1930018183
NM_000444.6(PHEX):c.755T>C (p.Phe252Ser) rs267606945
NM_000444.6(PHEX):c.766_767dup (p.Ala257fs) rs1930020467
NM_000444.6(PHEX):c.766dup (p.Thr256fs)
NM_000444.6(PHEX):c.779T>G (p.Leu260Ter) rs2147040166
NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer) rs886041569
NM_000444.6(PHEX):c.779dup (p.Leu260fs) rs886041569
NM_000444.6(PHEX):c.807del (p.His269fs) rs2147040206
NM_000444.6(PHEX):c.814A>T (p.Lys272Ter) rs1930023604
NM_000444.6(PHEX):c.819_845del (p.Val274_Ala282del) rs2147040227
NM_000444.6(PHEX):c.83del (p.Gly28fs) rs1926873715
NM_000444.6(PHEX):c.847_849+2del rs886041681
NM_000444.6(PHEX):c.849+1G>A rs1057521144
NM_000444.6(PHEX):c.849+1G>T 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.853_856dup (p.Ile286fs)
NM_000444.6(PHEX):c.853dup (p.Met285fs) rs2147043566
NM_000444.6(PHEX):c.869del (p.Asn290fs)
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.874dup (p.Thr292fs) rs2147043596
NM_000444.6(PHEX):c.883del (p.Ala295fs) rs1057517791
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000444.6(PHEX):c.891C>G (p.Tyr297Ter) rs2147043669
NM_000444.6(PHEX):c.895A>T (p.Lys299Ter) rs772921325
NM_000444.6(PHEX):c.898del (p.Lys299_Met300insTer) rs2147043679
NM_000444.6(PHEX):c.907del (p.Ser303fs) rs2147043710
NM_000444.6(PHEX):c.909_912dup (p.Leu305Ter)
NM_000444.6(PHEX):c.924_927dup (p.Pro310fs) rs1930171625
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter) rs1321395083
NM_000444.6(PHEX):c.933+1G>A rs1556025314
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.934-1G>A rs1602292528
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.934-2A>G rs1930291143
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter) rs886041853
NM_000444.6(PHEX):c.942G>A (p.Trp314Ter) rs1930292419
NM_000444.6(PHEX):c.943_946del (p.Leu315fs) rs2147047042
NM_000444.6(PHEX):c.944dup (p.Tyr317fs)
NM_000444.6(PHEX):c.956dup (p.Lys320fs) rs1930293543
NM_000444.6(PHEX):c.961_968dup (p.Asp323fs)
NM_000444.6(PHEX):c.978_979del (p.Tyr327fs) rs1930295441
NM_000444.6(PHEX):c.978_979dup (p.Tyr327fs) rs1930295441
NM_000444.6(PHEX):c.981C>A (p.Tyr327Ter) rs1930295914
NM_000444.6(PHEX):c.981C>G (p.Tyr327Ter) rs1930295914
NM_000444.6(PHEX):c.985dup (p.His329fs) rs1556025994
NM_000444.6(PHEX):c.994del (p.Asp332fs) rs2147047261
Single allele

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