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

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: 91

Download table as spreadsheet

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.1174-307T>C	rs143973252	0.01964
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.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.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.690C>T (p.Ala230=)	rs149487757	0.00014
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.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.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.1027G>A (p.Val343Ile)	rs768400503	0.00003
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)	rs775973349	0.00001
NM_000444.6(PHEX):c.1515C>T (p.Asn505=)	rs764771688	0.00001
NM_000444.6(PHEX):c.450A>G (p.Lys150=)	rs768868675	0.00001
NM_000444.6(PHEX):c.1025G>A (p.Arg342His)	rs376461141
NM_000444.6(PHEX):c.1119C>T (p.Ser373=)
NM_000444.6(PHEX):c.1149G>A (p.Gln383=)
NM_000444.6(PHEX):c.118+286del	rs3216804
NM_000444.6(PHEX):c.119-4dup
NM_000444.6(PHEX):c.1230T>G (p.Ile410Met)
NM_000444.6(PHEX):c.1302+11_1302+16del
NM_000444.6(PHEX):c.1404+28dup	rs747974210
NM_000444.6(PHEX):c.1406C>T (p.Ala469Val)
NM_000444.6(PHEX):c.1483-312=	rs5951715
NM_000444.6(PHEX):c.1554C>A (p.Phe518Leu)
NM_000444.6(PHEX):c.1626T>C (p.Ser542=)
NM_000444.6(PHEX):c.1645+212A>G	rs16981831
NM_000444.6(PHEX):c.187+9_187+10del
NM_000444.6(PHEX):c.245G>A (p.Arg82Gln)
NM_000444.6(PHEX):c.324A>G (p.Arg108=)
NM_000444.6(PHEX):c.366A>G (p.Ser122=)
NM_000444.6(PHEX):c.387C>T (p.Thr129=)
NM_000444.6(PHEX):c.397C>G (p.Gln133Glu)
NM_000444.6(PHEX):c.399G>A (p.Gln133=)	rs1602273860
NM_000444.6(PHEX):c.441G>A (p.Ala147=)	rs770726332
NM_000444.6(PHEX):c.480A>G (p.Leu160=)
NM_000444.6(PHEX):c.504C>T (p.Pro168=)
NM_000444.6(PHEX):c.579G>A (p.Thr193=)
NM_000444.6(PHEX):c.663+8G>A	rs763608782
NM_000444.6(PHEX):c.664-18C>T
NM_000444.6(PHEX):c.691G>A (p.Val231Met)
NM_000444.6(PHEX):c.733-6T>A
NM_000444.6(PHEX):c.840G>A (p.Lys280=)
NM_000444.6(PHEX):c.849+18dup
NM_000444.6(PHEX):c.901A>C (p.Asn301His)
NM_000444.6(PHEX):c.937G>A (p.Asp313Asn)

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.