ClinVar Miner

List of variants in gene PHEX reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
GRCh37/hg19 Xp22.11(chrX:22151640-22186506)x1
NC_000023.10:g.(?_22056567)_(22056675_?)del
NC_000023.10:g.(?_22065148)_(22117289_?)dup
NC_000023.10:g.(?_22094486)_(22117289_?)dup
NC_000023.10:g.(?_22094506)_(22196493_?)dup
NC_000023.10:g.(?_22108527)_(22151761_?)dup
NC_000023.10:g.(?_22108537)_(22108625_?)del
NC_000023.10:g.(?_22112101)_(22112217_?)del
NC_000023.10:g.(?_22115053)_(22115176_?)del
NC_000023.10:g.(?_22186409)_(22208639_?)dup
NC_000023.10:g.(?_22186468)_22186740del
NC_000023.10:g.(?_22239710)_(22245748_?)dup
NC_000023.10:g.(?_22263450)_(22263526_?)del
NC_000023.11:g.(?_22090429)_(22094099_?)del
NC_000023.11:g.(?_22096955)_(22097038_?)del
NC_000023.11:g.(?_22168312)_(22190502_?)dup
NC_000023.11:g.(?_22168312)_(22227611_?)dup
NC_000023.11:g.(?_22221613)_(22227611_?)dup
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1080-1_1084del
NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro) rs1930965902
NM_000444.6(PHEX):c.1173+5G>A rs1930971527
NM_000444.6(PHEX):c.118+2del rs1926875686
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1302+4_1302+10del rs1931151383
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) rs1057517904
NM_000444.6(PHEX):c.1334C>A (p.Ala445Asp) rs2147086411
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly) 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.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1405-2_1415del
NM_000444.6(PHEX):c.1405-3739_1459del
NM_000444.6(PHEX):c.1415T>A (p.Val472Asp)
NM_000444.6(PHEX):c.1445_1482+235del
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1586+3G>T rs2147128300
NM_000444.6(PHEX):c.1586+6T>G rs1057518214
NM_000444.6(PHEX):c.1627_1645+12del rs1934164465
NM_000444.6(PHEX):c.1640A>C (p.Gln547Pro) rs2147139114
NM_000444.6(PHEX):c.1645+4A>G
NM_000444.6(PHEX):c.1645+5G>A rs1085307522
NM_000444.6(PHEX):c.1645+5G>C rs1085307522
NM_000444.6(PHEX):c.289_349+836delinsAAGATATGCCT rs1927579212
NM_000444.6(PHEX):c.304G>T (p.Gly102Trp) rs1927580756
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.349+2del
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.436+1G>C rs1057517788
NM_000444.6(PHEX):c.436+3G>C rs2147019311
NM_000444.6(PHEX):c.436+3G>T
NM_000444.6(PHEX):c.436+6T>A rs1556020485
NM_000444.6(PHEX):c.467T>G (p.Leu156Arg)
NM_000444.6(PHEX):c.479T>C (p.Leu160Pro) rs2147020424
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn) rs1085307950
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-2A>C rs1131692026
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del) rs1064796391
NM_000444.6(PHEX):c.759G>A (p.Met253Ile) rs267606946
NM_000444.6(PHEX):c.770C>A (p.Ala257Asp)
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) rs2147040261
NM_000444.6(PHEX):c.850-10_858del
NM_000444.6(PHEX):c.914T>C (p.Leu305Pro)
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968

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