List of variants in gene HPRT1 studied for Lesch-Nyhan syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 173

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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.325C>A (p.Gln109Lys)	rs137852489	0.00006
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
HPRT CHICAGO	rs2077615673
HPRT CONNERSVILLE
HPRT COORPAROO	rs2077615719
HPRT MICHIGAN
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
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.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(?_134473339)_(134500097_?)del
NC_000023.11:g.(?_134500010)_(134500097_?)del
NG_012329.2:g.(5195_18214)_(18322_20036)del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro)	rs137852480
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.211G>C (p.Gly71Arg)	rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu)	rs137852481
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.389T>A (p.Val130Asp)	rs137852483
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)	rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter)	rs137852505
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser)	rs137852484
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn)	rs267606863
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val)	rs137852486
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)	rs387906428
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.124_127del (p.Ile42fs)	rs2077615821
NM_000194.3(HPRT1):c.126del (p.Met43fs)
NM_000194.3(HPRT1):c.134+12C>G
NM_000194.3(HPRT1):c.134+18A>G
NM_000194.3(HPRT1):c.134+1G>C	rs2124290378
NM_000194.3(HPRT1):c.134+6_134+9del	rs794727238
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys)	rs137852491
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.160_199del (p.Met54fs)
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.221T>G (p.Phe74Cys)	rs1602741150
NM_000194.3(HPRT1):c.231C>T (p.Asp77=)
NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro)	rs2124291470
NM_000194.3(HPRT1):c.258T>C (p.Asn86=)
NM_000194.3(HPRT1):c.261A>G (p.Arg87=)
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.28-2A>G
NM_000194.3(HPRT1):c.28-2A>T	rs1569354918
NM_000194.3(HPRT1):c.289_290del (p.Val97fs)
NM_000194.3(HPRT1):c.317_318del
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.319-7dup	rs371480320
NM_000194.3(HPRT1):c.319-8_319-7dup	rs371480320
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.384+1G>T	rs398123240
NM_000194.3(HPRT1):c.385-5T>C
NM_000194.3(HPRT1):c.391T>C (p.Leu131=)
NM_000194.3(HPRT1):c.392del (p.Val130_Leu131insTer)
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.428T>A (p.Met143Lys)	rs137852496
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.47G>T (p.Gly16Val)	rs1135401801
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)	rs137852484
NM_000194.3(HPRT1):c.485+15T>A
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile)	rs886042455
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.527C>T (p.Pro176Leu)	rs137852493
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr)	rs137852492
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.532+5G>A	rs1569360089
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.536T>C (p.Val179Ala)	rs1569360120
NM_000194.3(HPRT1):c.539G>A (p.Gly180Glu)	rs2124305307
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.568G>T (p.Gly190Ter)
NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu)
NM_000194.3(HPRT1):c.57T>G (p.Leu19=)
NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr)
NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys)	rs2124305337
NM_000194.3(HPRT1):c.609+20T>C
NM_000194.3(HPRT1):c.609+5G>A	rs1569360139
NM_000194.3(HPRT1):c.609dup (p.His204fs)	rs1556030169
NM_000194.3(HPRT1):c.610-4A>G
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT	rs672601245
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>G (p.His204Asp)	rs137852490
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.70A>T (p.Ile24Leu)
NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr)	rs762739119
NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser)
NM_000194.3:c.-147_384del

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