ClinVar Miner

List of variants in gene PHEX studied for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
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.(?_22051124)_(22051242_22056586)del
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs) rs1569434045
NM_000444.6(PHEX):c.-108A>G rs149541983
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A
NM_000444.6(PHEX):c.-126C>G
NM_000444.6(PHEX):c.-33C>T rs5951494
NM_000444.6(PHEX):c.-90A>G rs178710
NM_000444.6(PHEX):c.101del (p.Gly34fs)
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.1026C>T (p.Arg342=) rs746847960
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val)
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) rs1556029499
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.1157G>A (p.Trp386Ter)
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.118+7G>T rs534550003
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
NM_000444.6(PHEX):c.1269del (p.Asp424fs) rs1556030487
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) rs1556030502
NM_000444.6(PHEX):c.1303-1G>C rs1556036014
NM_000444.6(PHEX):c.1324del (p.Val442fs)
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519
NM_000444.6(PHEX):c.135_136del (p.Leu47fs)
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
NM_000444.6(PHEX):c.1404+2T>G rs193922454
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs)
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) rs202074612
NM_000444.6(PHEX):c.1482+5G>C rs1269067103
NM_000444.6(PHEX):c.1483-2A>G rs1556070724
NM_000444.6(PHEX):c.1483-7T>C
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.1560del (p.Trp520fs) rs1556071086
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) rs1556071123
NM_000444.6(PHEX):c.1572dup (p.Val525fs) rs1556071138
NM_000444.6(PHEX):c.1586+14A>T
NM_000444.6(PHEX):c.1586+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A
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>C (p.Trp530Cys) rs1556091855
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) rs1556014263
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)
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) rs193922458
NM_000444.6(PHEX):c.349+1G>A
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) rs1556020460
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
NM_000444.6(PHEX):c.436+5G>T
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.444T>C (p.Ile148=)
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
NM_000444.6(PHEX):c.544_545GA[1] (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.559del (p.Leu187fs)
NM_000444.6(PHEX):c.582del (p.Arg195fs)
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.593del (p.Tyr198fs)
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn)
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) rs1556023495
NM_000444.6(PHEX):c.680_681TC[1] (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.690C>T (p.Ala230=)
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000444.6(PHEX):c.704del (p.Tyr235fs) rs1556023503
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) rs1556023505
NM_000444.6(PHEX):c.732+5G>A rs1556023528
NM_000444.6(PHEX):c.732+5G>C rs1556023528
NM_000444.6(PHEX):c.733-1G>C
NM_000444.6(PHEX):c.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) rs1556024541
NM_000444.6(PHEX):c.849+1268G>T
NM_000444.6(PHEX):c.849+3A>G
NM_000444.6(PHEX):c.849_849+2del
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) rs193922460
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.934-1G>T
NM_000444.6(PHEX):c.934-3_934-1delinsTCA rs1556025936
NM_000444.6(PHEX):c.955_957AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.985del (p.His329fs)
PHEX, 2-BP DEL, 675TC
PHEX, A-G, NT-429
PHEX, IVS1AS, G-A, -1
PHEX, IVS1AS, G-C, -1
PHEX, IVS4, T-C, +6
Single allele

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