ClinVar Miner

List of variants in gene PHEX

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 845
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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.-108A>G rs149541983 0.01269
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.1383G>A (p.Thr461=) rs77710864 0.00397
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
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.249C>T (p.Phe83=) rs145224279 0.00048
NM_000444.6(PHEX):c.1482+16A>C rs376298942 0.00034
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
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.690C>T (p.Ala230=) rs149487757 0.00014
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.482G>A (p.Arg161Gln) rs138497409 0.00012
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521 0.00012
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00009
NM_000444.6(PHEX):c.505G>A (p.Val169Met) rs187824835 0.00009
NM_000444.6(PHEX):c.380G>A (p.Arg127Gln) rs370698419 0.00008
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.1185G>C (p.Gly395=) rs371115510 0.00006
NM_000444.6(PHEX):c.1405-4del rs746671817 0.00006
NM_000444.6(PHEX):c.922A>G (p.Met308Val) rs372663150 0.00006
NM_000444.6(PHEX):c.1141C>T (p.Arg381Cys) rs932260939 0.00005
NM_000444.6(PHEX):c.1461T>C (p.His487=) rs765101791 0.00005
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000444.6(PHEX):c.379C>T (p.Arg127Trp) rs375376231 0.00004
NM_000444.6(PHEX):c.1024C>T (p.Arg342Cys) rs761575825 0.00003
NM_000444.6(PHEX):c.1027G>A (p.Val343Ile) rs768400503 0.00003
NM_000444.6(PHEX):c.1470A>T (p.Glu490Asp) rs371934258 0.00003
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000444.6(PHEX):c.64G>T (p.Ala22Ser) rs773927462 0.00003
NM_000444.6(PHEX):c.72C>T (p.Val24=) rs1456105345 0.00003
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437 0.00002
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn) rs373235530 0.00002
NM_000444.6(PHEX):c.750C>T (p.Tyr250=) rs1322662992 0.00002
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.1303-10T>A rs775781868 0.00001
NM_000444.6(PHEX):c.1328G>A (p.Arg443His) rs1285918997 0.00001
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile) rs766990714 0.00001
NM_000444.6(PHEX):c.1515C>T (p.Asn505=) rs764771688 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.293T>A (p.Met98Lys) rs1207505931 0.00001
NM_000444.6(PHEX):c.450A>G (p.Lys150=) rs768868675 0.00001
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys) rs776124957 0.00001
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x2
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x3
GRCh37/hg19 Xp22.11(chrX:22151640-22186506)x1
GRCh37/hg19 Xp22.11(chrX:22161754-22215726)
GRCh37/hg19 Xp22.11(chrX:22166967-22219901)x2
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0
GRCh38/hg38 Xp22.11(chrX:22173842-22186370)x2
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
NC_000023.10:g.(?_22050695)_(22051261_?)dup
NC_000023.10:g.(?_22050695)_(22132724_?)del
NC_000023.10:g.(?_22050695)_(22266301_?)del
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
NC_000023.10:g.(?_22056567)_(22056675_?)del
NC_000023.10:g.(?_22056567)_(22266301_?)dup
NC_000023.10:g.(?_22065148)_(22117289_?)dup
NC_000023.10:g.(?_22065168)_(22132704_?)dup
NC_000023.10:g.(?_22094486)_(22115176_?)dup
NC_000023.10:g.(?_22094486)_(22117289_?)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.(?_22094506)_(22196493_?)dup
NC_000023.10:g.(?_22108527)_(22108635_?)del
NC_000023.10:g.(?_22108527)_(22108635_?)dup
NC_000023.10:g.(?_22108527)_(22151761_?)dup
NC_000023.10:g.(?_22108527)_(22186526_?)dup
NC_000023.10:g.(?_22108537)_(22108625_?)del
NC_000023.10:g.(?_22112081)_(22117289_?)del
NC_000023.10:g.(?_22112101)_(22112217_?)del
NC_000023.10:g.(?_22113485)_(22117289_?)del
NC_000023.10:g.(?_22115053)_(22115176_?)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)_(22208639_?)dup
NC_000023.10:g.(?_22186409)_(22266301_?)del
NC_000023.10:g.(?_22186409)_(22266301_?)dup
NC_000023.10:g.(?_22186468)_22186740del
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.(?_22231001)_(22266301_?)dup
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.(?_22239710)_(22245748_?)dup
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.(?_22263430)_(22266301_?)dup
NC_000023.10:g.(?_22263450)_(22263526_?)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.(?_22090429)_(22094099_?)del
NC_000023.11:g.(?_22096955)_(22097038_?)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.(?_22133523)_(22168389_?)dup
NC_000023.11:g.(?_22133523)_(22227611_?)dup
NC_000023.11:g.(?_22168312)_(22190502_?)dup
NC_000023.11:g.(?_22168312)_(22227611_?)dup
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.(?_22178273)_(22190502_?)dup
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
NC_000023.11:g.(?_22221613)_(22227611_?)dup
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-11C>T
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.-429T>C
NM_000444.6(PHEX):c.1009G>T (p.Glu337Ter) rs770491624
NM_000444.6(PHEX):c.1017GGT[1] (p.Val341del) rs1930299982
NM_000444.6(PHEX):c.1019del (p.Val340fs)
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1021del (p.Val341fs) rs1930300418
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1030_1038del (p.Pro344_Tyr346del) rs1556026030
NM_000444.6(PHEX):c.1031C>T (p.Pro344Leu)
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.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1046dup (p.Asp349fs) rs1057517792
NM_000444.6(PHEX):c.104C>T (p.Thr35Met)
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.1062A>G (p.Leu354=)
NM_000444.6(PHEX):c.1065del (p.Ser356fs)
NM_000444.6(PHEX):c.1075_1076del (p.Lys359fs)
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.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1080-10_1080-9delinsTA
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1080-1_1084del
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.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1091_1099dup (p.Leu366_Val367insAspTyrLeu) rs1930962739
NM_000444.6(PHEX):c.109C>G (p.Leu37Val)
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
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.1111G>A (p.Val371Ile)
NM_000444.6(PHEX):c.1116T>A (p.Tyr372Ter) rs1930964729
NM_000444.6(PHEX):c.1119C>T (p.Ser373=)
NM_000444.6(PHEX):c.1125T>A (p.Ile375=)
NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro) rs1930965902
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)
NM_000444.6(PHEX):c.1134del (p.Ser379fs) rs1556029516
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp) rs1556029519
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.1149G>A (p.Gln383=)
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.1154G>A (p.Arg385Lys)
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>A
NM_000444.6(PHEX):c.1173+2T>C rs1057517896
NM_000444.6(PHEX):c.1173+5G>A rs1930971527
NM_000444.6(PHEX):c.1173+5G>T
NM_000444.6(PHEX):c.1174-10_1174-1del
NM_000444.6(PHEX):c.1174-11A>G
NM_000444.6(PHEX):c.1174-11A>T
NM_000444.6(PHEX):c.1174-14A>G
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.1174-3C>G rs1446526598
NM_000444.6(PHEX):c.1174-8T>C
NM_000444.6(PHEX):c.1174-9C>G
NM_000444.6(PHEX):c.118+1G>A rs1131691731
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.118+286del rs3216804
NM_000444.6(PHEX):c.118+2del rs1926875686
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.119-10_119-9del
NM_000444.6(PHEX):c.119-17G>A
NM_000444.6(PHEX):c.119-1G>A rs2146979490
NM_000444.6(PHEX):c.119-1G>C rs2146979490
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.119-4dup
NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser)
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.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter) rs1416252114
NM_000444.6(PHEX):c.1219G>A (p.Val407Ile)
NM_000444.6(PHEX):c.1220T>G (p.Val407Gly) rs764695823
NM_000444.6(PHEX):c.1224del (p.Phe409fs) rs1931146041
NM_000444.6(PHEX):c.1229_1232del (p.Ile410fs) rs2147065695
NM_000444.6(PHEX):c.1230T>G (p.Ile410Met)
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.1249G>A (p.Val417Ile)
NM_000444.6(PHEX):c.124del (p.Gln42fs) rs1927126429
NM_000444.6(PHEX):c.1250T>G (p.Val417Gly)
NM_000444.6(PHEX):c.1263G>A (p.Met421Ile)
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
NM_000444.6(PHEX):c.1269del (p.Asp424fs) rs1556030487
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.1297G>T (p.Glu433Ter) rs1556030502
NM_000444.6(PHEX):c.1302+11_1302+16del
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.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1302+4_1302+10del rs1931151383
NM_000444.6(PHEX):c.1302G>A (p.Met434Ile)
NM_000444.6(PHEX):c.1303-1G>A rs1556036014
NM_000444.6(PHEX):c.1303-1G>C rs1556036014
NM_000444.6(PHEX):c.1303-2A>G
NM_000444.6(PHEX):c.1303-3T>C
NM_000444.6(PHEX):c.1304T>G (p.Met435Arg) rs1932101873
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1309dup (p.Glu437fs) rs886041588
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) rs1057517904
NM_000444.6(PHEX):c.1313del (p.Leu438fs) rs1932102521
NM_000444.6(PHEX):c.1316T>G (p.Val439Gly) rs2147086323
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
NM_000444.6(PHEX):c.1323C>T (p.Gly441=)
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1325T>A (p.Val442Asp)
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs) rs2147086366
NM_000444.6(PHEX):c.1328G>C (p.Arg443Pro) rs1285918997
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.1332G>A (p.Trp444Ter) rs2147086402
NM_000444.6(PHEX):c.1334C>A (p.Ala445Asp) rs2147086411
NM_000444.6(PHEX):c.1335C>A (p.Ala445=) rs886841607
NM_000444.6(PHEX):c.1335del (p.Phe446fs) rs1932104985
NM_000444.6(PHEX):c.1336_1337insAATA (p.Phe446Ter) rs2147086429
NM_000444.6(PHEX):c.1344del (p.Asp448fs)
NM_000444.6(PHEX):c.1345del (p.Met449fs)
NM_000444.6(PHEX):c.1347G>A (p.Met449Ile)
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.135_136del (p.Leu47fs) rs1602244774
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter) rs886039585
NM_000444.6(PHEX):c.1364del (p.Glu455fs)
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>A (p.Trp456Ter) rs886043680
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu) rs2147086514
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
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.1394C>A (p.Ala465Asp) rs1932109437
NM_000444.6(PHEX):c.1396A>C (p.Lys466Gln)
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>G (p.Lys468Glu) rs1602324630
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+1G>C rs2147086611
NM_000444.6(PHEX):c.1404+28dup rs747974210
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1404+2_1404+6del rs2147086590
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1404G>T (p.Lys468Asn)
NM_000444.6(PHEX):c.1405-2_1415del
NM_000444.6(PHEX):c.1405-3739_1459del
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1406C>T (p.Ala469Val)
NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal) rs1933405005
NM_000444.6(PHEX):c.1415T>A (p.Val472Asp)
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) rs202074612
NM_000444.6(PHEX):c.142dup (p.Gln48fs) rs2146979520
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter) rs886041360
NM_000444.6(PHEX):c.1434T>C (p.Tyr478=) rs886041360
NM_000444.6(PHEX):c.1445_1482+235del
NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs) rs2147118758
NM_000444.6(PHEX):c.1448T>C (p.Met483Thr)
NM_000444.6(PHEX):c.1454A>G (p.Asp485Gly)
NM_000444.6(PHEX):c.1461del (p.His487fs)
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
NM_000444.6(PHEX):c.1479del (p.Ala494fs)
NM_000444.6(PHEX):c.1479dup (p.Ala494fs) rs2147118833
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+1del
NM_000444.6(PHEX):c.1482+2T>A rs1933408913
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.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1483-1G>A rs1057517794
NM_000444.6(PHEX):c.1483-1G>C rs1057517794
NM_000444.6(PHEX):c.1483-2A>G rs1556070724
NM_000444.6(PHEX):c.1483-312= rs5951715
NM_000444.6(PHEX):c.1495G>T (p.Glu499Ter)
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1500C>T (p.Ala500=)
NM_000444.6(PHEX):c.1501_1506del (p.Asp501_Tyr502del) rs2147128100
NM_000444.6(PHEX):c.1506C>G (p.Tyr502Ter) rs1933773048
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)
NM_000444.6(PHEX):c.1519C>G (p.Leu507Val) rs1933773605
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) rs1064794303
NM_000444.6(PHEX):c.1520T>C (p.Leu507Pro) rs1933773762
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
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.1532A>C (p.Lys511Thr)
NM_000444.6(PHEX):c.1535del (p.Tyr512fs) rs1933775645
NM_000444.6(PHEX):c.1536T>A (p.Tyr512Ter) rs2147128208
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
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.1551T>C (p.Asp517=)
NM_000444.6(PHEX):c.1554C>A (p.Phe518Leu)
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1560G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1560del (p.Trp520fs) rs1556071086
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) rs1556071123
NM_000444.6(PHEX):c.1572C>T (p.Ala524=)
NM_000444.6(PHEX):c.1572dup (p.Val525fs) rs1556071138
NM_000444.6(PHEX):c.1573G>A (p.Val525Ile)
NM_000444.6(PHEX):c.1586+14A>T rs771287470
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+2T>G rs1057518377
NM_000444.6(PHEX):c.1586+3G>T rs2147128300
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+5G>C
NM_000444.6(PHEX):c.1586+6T>G rs1057518214
NM_000444.6(PHEX):c.1586_1586+1del rs886041362
NM_000444.6(PHEX):c.1587-14T>C
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.1590G>C (p.Trp530Cys) 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.1604C>T (p.Thr535Met)
NM_000444.6(PHEX):c.161dup (p.Cys54fs) rs2146979558
NM_000444.6(PHEX):c.1621T>G (p.Tyr541Asp) rs2147139089
NM_000444.6(PHEX):c.1625G>C (p.Ser542Thr)
NM_000444.6(PHEX):c.1626T>C (p.Ser542=)
NM_000444.6(PHEX):c.1627_1645+12del rs1934164465
NM_000444.6(PHEX):c.1632C>T (p.Ser544=)
NM_000444.6(PHEX):c.1638C>A (p.Asn546Lys)
NM_000444.6(PHEX):c.1640A>C (p.Gln547Pro) rs2147139114
NM_000444.6(PHEX):c.1643T>C (p.Ile548Thr)
NM_000444.6(PHEX):c.1645+187dup rs202159277
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1645+1G>T
NM_000444.6(PHEX):c.1645+212A>G rs16981831
NM_000444.6(PHEX):c.1645+2T>G rs2147139131
NM_000444.6(PHEX):c.1645+4A>C rs2147139133
NM_000444.6(PHEX):c.1645+4A>G
NM_000444.6(PHEX):c.1645+5G>A rs1085307522
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.171del (p.Glu58fs)
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_000444.6(PHEX):c.177C>A (p.Cys59Ter) rs2146979567
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.184G>A (p.Ala62Thr)
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.186G>A (p.Ala62=)
NM_000444.6(PHEX):c.187+12T>C
NM_000444.6(PHEX):c.187+1G>A rs1556012100
NM_000444.6(PHEX):c.187+1G>C rs1556012100
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.187+2T>A rs1927131178
NM_000444.6(PHEX):c.187+3_187+6del rs2146979608
NM_000444.6(PHEX):c.187+9_187+10del
NM_000444.6(PHEX):c.188-17A>T rs2146987618
NM_000444.6(PHEX):c.188-1G>A rs1927567325
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.188-2A>C
NM_000444.6(PHEX):c.198C>G (p.Ile66Met)
NM_000444.6(PHEX):c.1A>T (p.Met1Leu)
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
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.20_21del (p.Ser7fs) rs1602240926
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.229T>A (p.Cys77Ser) rs2146987697
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.239T>C (p.Phe80Ser)
NM_000444.6(PHEX):c.239del (p.Phe80fs)
NM_000444.6(PHEX):c.241T>C (p.Phe81Leu) rs1927572565
NM_000444.6(PHEX):c.244C>T (p.Arg82Trp)
NM_000444.6(PHEX):c.245G>A (p.Arg82Gln)
NM_000444.6(PHEX):c.245G>T (p.Arg82Leu)
NM_000444.6(PHEX):c.250G>A (p.Ala84Thr)
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp) rs1556014284
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) rs1556014287
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.286G>A (p.Glu96Lys)
NM_000444.6(PHEX):c.289_349+836delinsAAGATATGCCT rs1927579212
NM_000444.6(PHEX):c.292dup (p.Met98fs)
NM_000444.6(PHEX):c.295_304del (p.Pro99fs)
NM_000444.6(PHEX):c.299G>A (p.Ser100Asn)
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.304G>T (p.Gly102Trp) 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.324A>G (p.Arg108=)
NM_000444.6(PHEX):c.328_330del (p.Asn110del)
NM_000444.6(PHEX):c.329dup (p.Asn110fs)
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.33T>C (p.Thr11=) rs886043583
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.349+2del
NM_000444.6(PHEX):c.349+2dup rs1927584800
NM_000444.6(PHEX):c.350-18C>G
NM_000444.6(PHEX):c.350-1G>A rs2147019098
NM_000444.6(PHEX):c.350-1G>C rs2147019098
NM_000444.6(PHEX):c.350-2A>G rs1929150904
NM_000444.6(PHEX):c.352C>T (p.Leu118Phe)
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.366A>G (p.Ser122=)
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.367del (p.Ile123fs)
NM_000444.6(PHEX):c.373A>T (p.Arg125Ter)
NM_000444.6(PHEX):c.378G>A (p.Arg126=)
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.386C>G (p.Thr129Ser)
NM_000444.6(PHEX):c.387C>T (p.Thr129=)
NM_000444.6(PHEX):c.397C>G (p.Gln133Glu)
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.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.3G>T (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.403G>A (p.Ala135Thr)
NM_000444.6(PHEX):c.404C>A (p.Ala135Asp) rs1929155246
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.415T>A (p.Tyr139Asn) rs1556020460
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.419C>T (p.Ser140Leu)
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.423del (p.Cys142fs) rs2147019260
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
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.433G>T (p.Glu145Ter) rs2147019297
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+2T>A rs1929158021
NM_000444.6(PHEX):c.436+2_436+3del
NM_000444.6(PHEX):c.436+3G>C rs2147019311
NM_000444.6(PHEX):c.436+3G>T
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.436+5G>A rs1602273945
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.436+6T>A rs1556020485
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.437-17T>C
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.437-3C>G rs1602274684
NM_000444.6(PHEX):c.440C>G (p.Ala147Gly)
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.441G>A (p.Ala147=) rs770726332
NM_000444.6(PHEX):c.444del (p.Ile148fs) rs2147020361
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter) rs886042025
NM_000444.6(PHEX):c.44C>G (p.Ala15Gly)
NM_000444.6(PHEX):c.455dup (p.Asp152fs) rs2147020395
NM_000444.6(PHEX):c.457dup (p.Ala153fs) rs1929202609
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.467T>G (p.Leu156Arg)
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.468dup (p.Leu157fs) rs2147020408
NM_000444.6(PHEX):c.479T>C (p.Leu160Pro) rs2147020424
NM_000444.6(PHEX):c.480A>G (p.Leu160=)
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.496C>T (p.Arg166Cys) rs751230094
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
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.504C>T (p.Pro168=)
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.532G>T (p.Gly178Trp)
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
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.546_549del (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.547_551dup (p.Phe185fs)
NM_000444.6(PHEX):c.551dup (p.Phe185fs) rs1929210900
NM_000444.6(PHEX):c.552del (p.Lys184fs) rs2147020659
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter) rs1057521143
NM_000444.6(PHEX):c.567_568del (p.Gln189fs) rs2147020687
NM_000444.6(PHEX):c.569C>G (p.Thr190Arg)
NM_000444.6(PHEX):c.56C>A (p.Thr19Asn)
NM_000444.6(PHEX):c.572T>C (p.Leu191Pro)
NM_000444.6(PHEX):c.578C>T (p.Thr193Met)
NM_000444.6(PHEX):c.578del (p.Thr193fs)
NM_000444.6(PHEX):c.579G>A (p.Thr193=)
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
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.593A>T (p.Tyr198Phe)
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.593dup (p.Tyr198Ter) rs2147020737
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn) rs1085307950
NM_000444.6(PHEX):c.613del (p.Arg205fs) rs1929214770
NM_000444.6(PHEX):c.614G>A (p.Arg205His)
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.620A>G (p.Tyr207Cys)
NM_000444.6(PHEX):c.620_623del (p.Tyr207fs) rs1929215753
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.626C>G (p.Ser209Cys)
NM_000444.6(PHEX):c.643dup (p.Ser215fs) rs2147020850
NM_000444.6(PHEX):c.645_652del (p.Asn216fs) rs1929218157
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) rs1929219058
NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe) rs2146974307
NM_000444.6(PHEX):c.652_655del (p.His218fs) rs2147020868
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.663+11G>T
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+20A>G
NM_000444.6(PHEX):c.663+2T>A rs1057518348
NM_000444.6(PHEX):c.663+2T>C rs1057518348
NM_000444.6(PHEX):c.663+6A>G
NM_000444.6(PHEX):c.663+8G>A rs763608782
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-18C>T
NM_000444.6(PHEX):c.664-1G>A rs886041529
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.664-2A>C rs1131692026
NM_000444.6(PHEX):c.664-2A>G
NM_000444.6(PHEX):c.665_674del rs2147035443
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter) rs948246694
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) rs1556023495
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.691G>A (p.Val231Met)
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.701A>G (p.Asp234Gly)
NM_000444.6(PHEX):c.704del (p.Tyr235fs) rs1556023503
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) rs1556023505
NM_000444.6(PHEX):c.708T>C (p.Leu236=)
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.732+3A>T rs2147035595
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.732+4_732+5insCA rs1929833587
NM_000444.6(PHEX):c.732+5G>A rs1556023528
NM_000444.6(PHEX):c.732+5G>C rs1556023528
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.733-6T>A
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.751A>G (p.Lys251Glu)
NM_000444.6(PHEX):c.753G>A (p.Lys251=)
NM_000444.6(PHEX):c.755T>C (p.Phe252Ser) rs267606945
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del) rs1064796391
NM_000444.6(PHEX):c.759G>A (p.Met253Ile) rs267606946
NM_000444.6(PHEX):c.764A>T (p.Asp255Val)
NM_000444.6(PHEX):c.766A>C (p.Thr256Pro) rs1930020278
NM_000444.6(PHEX):c.766_767dup (p.Ala257fs) rs1930020467
NM_000444.6(PHEX):c.766dup (p.Thr256fs)
NM_000444.6(PHEX):c.770C>A (p.Ala257Asp)
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.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.805C>G (p.His269Asp)
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.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.826A>T (p.Arg276Ter) rs2147040265
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.832G>A (p.Glu278Lys)
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) rs1556024541
NM_000444.6(PHEX):c.83del (p.Gly28fs) rs1926873715
NM_000444.6(PHEX):c.840G>A (p.Lys280=)
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
NM_000444.6(PHEX):c.846del (p.Glu283fs)
NM_000444.6(PHEX):c.847_849+2del rs886041681
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_000444.6(PHEX):c.849+18dup
NM_000444.6(PHEX):c.849+1G>A rs1057521144
NM_000444.6(PHEX):c.849+1G>T rs1057521144
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.850-10_858del
NM_000444.6(PHEX):c.850-13C>T
NM_000444.6(PHEX):c.850-15A>C
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.850-3C>T
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.865G>T (p.Glu289Ter) rs1602290398
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.901A>C (p.Asn301His)
NM_000444.6(PHEX):c.907del (p.Ser303fs) rs2147043710
NM_000444.6(PHEX):c.909_912dup (p.Leu305Ter)
NM_000444.6(PHEX):c.914T>C (p.Leu305Pro)
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
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.933+2T>A rs2147043777
NM_000444.6(PHEX):c.933+5G>C
NM_000444.6(PHEX):c.934-16_934-12delinsCTACCTAACTGAGAT rs1930289987
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.934-3_934-1delinsTCA rs1556025936
NM_000444.6(PHEX):c.937G>A (p.Asp313Asn)
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.947G>T (p.Gly316Val)
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.956A>C (p.Lys319Thr)
NM_000444.6(PHEX):c.956dup (p.Lys320fs) rs1930293543
NM_000444.6(PHEX):c.958A>T (p.Lys320Ter)
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.961_968dup (p.Asp323fs)
NM_000444.6(PHEX):c.974G>C (p.Arg325Thr)
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.980A>G (p.Tyr327Cys)
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.985del (p.His329fs) rs1556025994
NM_000444.6(PHEX):c.985dup (p.His329fs) rs1556025994
NM_000444.6(PHEX):c.994del (p.Asp332fs) rs2147047261
PHEX, A-G, NT-429
Single allele

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