List of variants in gene PHEX reported as pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 64

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)	rs202164519	0.00004
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_000444.6(PHEX):c.1022T>A (p.Val341Asp)	rs1556026027
NM_000444.6(PHEX):c.1044del (p.Asp349fs)	rs1556026042
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.118+1G>T	rs1131691731
NM_000444.6(PHEX):c.119-3C>G	rs1556012055
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)	rs1556030465
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.1303-2A>G
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.1404G>C (p.Lys468Asn)	rs754449807
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	rs375593493
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.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.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.181G>T (p.Glu61Ter)	rs770630990
NM_000444.6(PHEX):c.187+1G>T	rs1556012100
NM_000444.6(PHEX):c.187+1del	rs1556012094
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.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.546_549del (p.Arg183fs)	rs1556020798
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.621T>G (p.Tyr207Ter)	rs771208171
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)	rs1556023495
NM_000444.6(PHEX):c.682_683del (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.78dup (p.Val27fs)	rs1556010757
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)	rs1556024541
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	rs866429868
NM_000444.6(PHEX):c.933+1G>T	rs1556025314
NM_000444.6(PHEX):c.934-3_934-1delinsTCA	rs1556025936
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)	rs1556025968
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.