ClinVar Miner

List of variants studied for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome by Invitae

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000194.3(HPRT1):c.480C>T (p.Val160=) rs148780933 0.00170
NM_000194.3(HPRT1):c.384+19A>G rs183698879 0.00164
NM_000194.3(HPRT1):c.486-11G>A rs775260163 0.00024
NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala) rs534390401 0.00008
NM_000194.3(HPRT1):c.508C>A (p.Arg170=) rs137852497 0.00004
NM_000194.3(HPRT1):c.609+14T>G rs1000189373 0.00003
NM_000194.3(HPRT1):c.159G>A (p.Val53=) rs748568278 0.00002
NM_000194.3(HPRT1):c.384+9C>T rs748658007 0.00002
NM_000194.3(HPRT1):c.522T>C (p.Tyr174=) rs750762293 0.00001
HPRT CHERMSIDE rs2077673385
NC_000023.10:g.(?_132670132)_(133634127_?)del
NC_000023.10:g.(?_132670152)_(133634107_?)dup
NC_000023.10:g.(?_133627518)_(133628822_?)del
NC_000023.10:g.(?_133627564)_(133629109_?)del
NC_000023.10:g.(?_133632400)_(133634107_?)del
NC_000023.11:g.(?_134460292)_(134460385_?)del
NC_000023.11:g.(?_134460292)_(134500097_?)del
NC_000023.11:g.(?_134473339)_(134500097_?)del
NC_000023.11:g.(?_134500010)_(134500097_?)del
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.3(HPRT1):c.-12_1del (p.Met1fs) rs2124280474
NM_000194.3(HPRT1):c.102G>A (p.Arg34=)
NM_000194.3(HPRT1):c.117T>C (p.His39=)
NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter) rs2124290355
NM_000194.3(HPRT1):c.11_17del (p.Arg4fs) rs2124280518
NM_000194.3(HPRT1):c.124_127del (p.Ile42fs) rs2077615821
NM_000194.3(HPRT1):c.134+12C>G
NM_000194.3(HPRT1):c.134+18A>G
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln)
NM_000194.3(HPRT1):c.141A>G (p.Glu47=)
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.161T>C (p.Met54Thr)
NM_000194.3(HPRT1):c.174A>T (p.Gly58=)
NM_000194.3(HPRT1):c.177C>T (p.Gly59=)
NM_000194.3(HPRT1):c.184A>G (p.Ile62Val)
NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp) rs2124291425
NM_000194.3(HPRT1):c.200_201dup (p.Leu68fs)
NM_000194.3(HPRT1):c.204C>G (p.Leu68=)
NM_000194.3(HPRT1):c.212G>T (p.Gly71Val) rs2124291450
NM_000194.3(HPRT1):c.212del (p.Gly71fs)
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) rs786200980
NM_000194.3(HPRT1):c.21C>A (p.Gly7=)
NM_000194.3(HPRT1):c.21C>T (p.Gly7=)
NM_000194.3(HPRT1):c.22G>A (p.Val8Ile)
NM_000194.3(HPRT1):c.22_27+28del rs2077579380
NM_000194.3(HPRT1):c.231C>T (p.Asp77=)
NM_000194.3(HPRT1):c.23T>G (p.Val8Gly) rs2124280542
NM_000194.3(HPRT1):c.24C>G (p.Val8=)
NM_000194.3(HPRT1):c.258T>C (p.Asn86=)
NM_000194.3(HPRT1):c.261A>G (p.Arg87=)
NM_000194.3(HPRT1):c.27+12G>A
NM_000194.3(HPRT1):c.27+19C>G
NM_000194.3(HPRT1):c.27+19C>T
NM_000194.3(HPRT1):c.27+7A>G
NM_000194.3(HPRT1):c.28-13A>G
NM_000194.3(HPRT1):c.28-14del
NM_000194.3(HPRT1):c.28-15A>G
NM_000194.3(HPRT1):c.28-19A>G
NM_000194.3(HPRT1):c.289_290del (p.Val97fs)
NM_000194.3(HPRT1):c.318+18A>C
NM_000194.3(HPRT1):c.318+7A>G
NM_000194.3(HPRT1):c.318+9A>G
NM_000194.3(HPRT1):c.319-16T>A
NM_000194.3(HPRT1):c.319-16T>G
NM_000194.3(HPRT1):c.319-17T>G
NM_000194.3(HPRT1):c.319-17_319-16insCT
NM_000194.3(HPRT1):c.319-18T>G
NM_000194.3(HPRT1):c.319-18_319-17insG
NM_000194.3(HPRT1):c.319-19_319-18insG
NM_000194.3(HPRT1):c.319-19_319-18insGT
NM_000194.3(HPRT1):c.319-2A>G rs1602745376
NM_000194.3(HPRT1):c.319-7T>C
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.333_334del (p.Asp113fs)
NM_000194.3(HPRT1):c.336G>A (p.Gly112=)
NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr)
NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) rs2077653297
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) rs369065223
NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala)
NM_000194.3(HPRT1):c.384+11T>C
NM_000194.3(HPRT1):c.384+13A>G
NM_000194.3(HPRT1):c.385-5T>C
NM_000194.3(HPRT1):c.391T>C (p.Leu131=)
NM_000194.3(HPRT1):c.399G>A (p.Val133=)
NM_000194.3(HPRT1):c.402+1229A>G
NM_000194.3(HPRT1):c.402+8C>G
NM_000194.3(HPRT1):c.403-12C>A
NM_000194.3(HPRT1):c.403-17G>A
NM_000194.3(HPRT1):c.403-7T>A
NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr)
NM_000194.3(HPRT1):c.417T>C (p.Thr139=)
NM_000194.3(HPRT1):c.420C>A (p.Gly140=)
NM_000194.3(HPRT1):c.42del (p.Glu14fs)
NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter) rs2124302024
NM_000194.3(HPRT1):c.472dup (p.Val158fs) rs2124302051
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) rs137852484
NM_000194.3(HPRT1):c.485+15T>A
NM_000194.3(HPRT1):c.486-12dup
NM_000194.3(HPRT1):c.486-1G>A rs398123241
NM_000194.3(HPRT1):c.486-2A>G rs2077687102
NM_000194.3(HPRT1):c.486-3C>G rs2077687093
NM_000194.3(HPRT1):c.492G>C (p.Leu164=)
NM_000194.3(HPRT1):c.504C>T (p.Thr168=)
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.3(HPRT1):c.519A>C (p.Gly173=)
NM_000194.3(HPRT1):c.532+18T>C
NM_000194.3(HPRT1):c.532+1_532+2del rs2124305218
NM_000194.3(HPRT1):c.532+20T>C
NM_000194.3(HPRT1):c.533-11A>G
NM_000194.3(HPRT1):c.533-12G>T
NM_000194.3(HPRT1):c.533-13T>C
NM_000194.3(HPRT1):c.53A>G (p.Asp18Gly) rs2124290320
NM_000194.3(HPRT1):c.546A>G (p.Glu182=) rs2124305311
NM_000194.3(HPRT1):c.556_557del (p.Lys186fs) rs2124305315
NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) rs2077687660
NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu)
NM_000194.3(HPRT1):c.57T>G (p.Leu19=)
NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys) rs2124305337
NM_000194.3(HPRT1):c.609+20T>C
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610-4A>G
NM_000194.3(HPRT1):c.610-5del
NM_000194.3(HPRT1):c.610-5dup
NM_000194.3(HPRT1):c.610-6_610-5del
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) rs137852490
NM_000194.3(HPRT1):c.611A>T (p.His204Leu)
NM_000194.3(HPRT1):c.615T>C (p.Val205=)
NM_000194.3(HPRT1):c.615_620dup (p.Val207_Ile208insCysVal)
NM_000194.3(HPRT1):c.627T>G (p.Ser209Arg)
NM_000194.3(HPRT1):c.648C>G (p.Tyr216Ter)
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) rs1602750626
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) rs1602750635
NM_000194.3(HPRT1):c.69C>T (p.Cys23=) rs2077615705
NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser)

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