ClinVar Miner

List of variants reported as pathogenic for Familial X-linked hypophosphatemic vitamin D refractory rickets

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del rs0
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del rs0
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del rs0
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del rs0
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del rs0
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del rs0
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del rs0
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del rs0
NC_000023.10:g.(22208620_22231047)_(22266070_?)del rs0
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del rs0
NC_000023.10:g.(22237221_22239729)_(22266070_?)del rs0
NC_000023.10:g.(22239861_22244559)_(22266070_?)del rs0
NC_000023.10:g.(22245729_22263449)_(22266070_?)del rs0
NC_000023.10:g.(?_22051124)_(22051242_22056586)del rs0
NC_000023.10:g.22148200_22250155dup rs0
NC_000023.10:g.22256748_22370988del114241 rs0
NM_000444.4(PHEX):c.[755T>C;759G>A] rs0
NM_000444.5(PHEX):c.1587-2145_1645+3342del rs0
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1080-1G>A rs886041695
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) rs1602304005
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
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.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) rs1602324484
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519
NM_000444.6(PHEX):c.135_136del (p.Leu47fs) rs1602244774
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.1402A>T (p.Lys468Ter) rs1602324630
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) rs1602354302
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.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
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+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1587-1G>A rs886041839
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.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) rs1556128043
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700+2T>C rs1556128253
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) rs1556138590
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) rs1556138742
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2113_1957del rs0
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) rs1556148392
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs0
NM_000444.6(PHEX):c.2093del (p.Pro698fs) rs1556201034
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2147+3A>T rs1556201217
NM_000444.6(PHEX):c.2148-2A>G rs1556205815
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) rs1556206093
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) rs1556206335
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
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.349+1G>A rs193922459
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) rs151306376
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) rs1556020460
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.544_545GA[1] (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
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) rs1602274950
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
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.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 rs886041223
NM_000444.6(PHEX):c.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
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 rs919011936
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.934-1G>T rs1602292528
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.985del (p.His329fs) rs1556025994
PHEX, 2-BP DEL, 675TC rs0
PHEX, A-G, NT-429 rs0
PHEX, IVS1AS, G-A, -1 rs0
PHEX, IVS1AS, G-C, -1 rs0
PHEX, IVS4, T-C, +6 rs0
Single allele rs0

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