List of variants in gene PHEX reported as uncertain significance 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: 110

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HGVS	dbSNP	gnomAD frequency
NM_000444.6(PHEX):c.1344C>T (p.Asp448=)	rs144911719	0.00247
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)	rs145778165	0.00021
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)	rs145393882	0.00012
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn)	rs373235530	0.00002
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.226C>G (p.Pro76Ala)	rs201394441	0.00001
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys)	rs776124957	0.00001
NC_000023.10:g.(?_22050695)_(22051261_?)dup
NC_000023.10:g.(?_22056567)_(22266301_?)dup
NC_000023.10:g.(?_22108527)_(22108635_?)dup
NC_000023.10:g.(?_22108527)_(22186526_?)dup
NC_000023.10:g.(?_22186409)_(22266301_?)dup
NC_000023.10:g.(?_22231001)_(22266301_?)dup
NC_000023.10:g.(?_22263430)_(22266301_?)dup
NC_000023.11:g.(?_22133523)_(22168389_?)dup
NC_000023.11:g.(?_22133523)_(22227611_?)dup
NC_000023.11:g.(?_22178273)_(22190502_?)dup
NM_000444.6(PHEX):c.-429T>C
NM_000444.6(PHEX):c.1017GGT[1] (p.Val341del)	rs1930299982
NM_000444.6(PHEX):c.1080-10_1080-9delinsTA
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.1111G>A (p.Val371Ile)
NM_000444.6(PHEX):c.1154G>A (p.Arg385Lys)
NM_000444.6(PHEX):c.1174-14A>G
NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser)
NM_000444.6(PHEX):c.1220T>G (p.Val407Gly)	rs764695823
NM_000444.6(PHEX):c.1249G>A (p.Val417Ile)
NM_000444.6(PHEX):c.1250T>G (p.Val417Gly)
NM_000444.6(PHEX):c.1263G>A (p.Met421Ile)
NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
NM_000444.6(PHEX):c.1302G>A (p.Met434Ile)
NM_000444.6(PHEX):c.1303-3T>C
NM_000444.6(PHEX):c.1304T>G (p.Met435Arg)	rs1932101873
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)	rs777167473
NM_000444.6(PHEX):c.1325T>A (p.Val442Asp)
NM_000444.6(PHEX):c.1328G>C (p.Arg443Pro)	rs1285918997
NM_000444.6(PHEX):c.1347G>A (p.Met449Ile)
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)	rs1085308012
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)	rs886043680
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)	rs374873766
NM_000444.6(PHEX):c.1394C>A (p.Ala465Asp)	rs1932109437
NM_000444.6(PHEX):c.1396A>C (p.Lys466Gln)
NM_000444.6(PHEX):c.1402A>G (p.Lys468Glu)	rs1602324630
NM_000444.6(PHEX):c.1454A>G (p.Asp485Gly)
NM_000444.6(PHEX):c.1501_1506del (p.Asp501_Tyr502del)	rs2147128100
NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)
NM_000444.6(PHEX):c.1519C>G (p.Leu507Val)	rs1933773605
NM_000444.6(PHEX):c.1520T>C (p.Leu507Pro)	rs1933773762
NM_000444.6(PHEX):c.1532A>C (p.Lys511Thr)
NM_000444.6(PHEX):c.1573G>A (p.Val525Ile)
NM_000444.6(PHEX):c.1586+3_1586+6del	rs886042234
NM_000444.6(PHEX):c.1586+5G>C
NM_000444.6(PHEX):c.1604C>T (p.Thr535Met)
NM_000444.6(PHEX):c.1625G>C (p.Ser542Thr)
NM_000444.6(PHEX):c.1638C>A (p.Asn546Lys)
NM_000444.6(PHEX):c.1645+4A>C	rs2147139133
NM_000444.6(PHEX):c.1645+6T>A	rs1556092037
NM_000444.6(PHEX):c.184G>A (p.Ala62Thr)
NM_000444.6(PHEX):c.186G>A (p.Ala62=)
NM_000444.6(PHEX):c.187+3_187+6del	rs2146979608
NM_000444.6(PHEX):c.239T>C (p.Phe80Ser)
NM_000444.6(PHEX):c.241T>C (p.Phe81Leu)	rs1927572565
NM_000444.6(PHEX):c.245G>T (p.Arg82Leu)
NM_000444.6(PHEX):c.250G>A (p.Ala84Thr)
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp)	rs1556014284
NM_000444.6(PHEX):c.286G>A (p.Glu96Lys)
NM_000444.6(PHEX):c.328_330del (p.Asn110del)
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+2dup	rs1927584800
NM_000444.6(PHEX):c.352C>T (p.Leu118Phe)
NM_000444.6(PHEX):c.403G>A (p.Ala135Thr)
NM_000444.6(PHEX):c.404C>A (p.Ala135Asp)	rs1929155246
NM_000444.6(PHEX):c.419C>T (p.Ser140Leu)
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser)	rs1064797048
NM_000444.6(PHEX):c.436+4A>G	rs1057520344
NM_000444.6(PHEX):c.436+5G>A	rs1602273945
NM_000444.6(PHEX):c.437-3C>G	rs1602274684
NM_000444.6(PHEX):c.440C>G (p.Ala147Gly)
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.505G>C (p.Val169Leu)	rs187824835
NM_000444.6(PHEX):c.532G>T (p.Gly178Trp)
NM_000444.6(PHEX):c.569C>G (p.Thr190Arg)
NM_000444.6(PHEX):c.593A>T (p.Tyr198Phe)
NM_000444.6(PHEX):c.614G>A (p.Arg205His)
NM_000444.6(PHEX):c.620A>G (p.Tyr207Cys)
NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe)	rs2146974307
NM_000444.6(PHEX):c.663+6A>G
NM_000444.6(PHEX):c.701A>G (p.Asp234Gly)
NM_000444.6(PHEX):c.732+3A>T	rs2147035595
NM_000444.6(PHEX):c.732+4_732+5insCA	rs1929833587
NM_000444.6(PHEX):c.732+5G>A	rs1556023528
NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
NM_000444.6(PHEX):c.764A>T (p.Asp255Val)
NM_000444.6(PHEX):c.766A>C (p.Thr256Pro)	rs1930020278
NM_000444.6(PHEX):c.832G>A (p.Glu278Lys)
NM_000444.6(PHEX):c.849+1268G>T	rs919011936
NM_000444.6(PHEX):c.850-2A>G	rs1064793226
NM_000444.6(PHEX):c.850-3C>T
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)	rs1064796929
NM_000444.6(PHEX):c.933+5G>C
NM_000444.6(PHEX):c.934-16_934-12delinsCTACCTAACTGAGAT	rs1930289987
NM_000444.6(PHEX):c.947G>T (p.Gly316Val)
NM_000444.6(PHEX):c.956A>C (p.Lys319Thr)
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)	rs1556025976
NM_000444.6(PHEX):c.974G>C (p.Arg325Thr)
NM_000444.6(PHEX):c.980A>G (p.Tyr327Cys)

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