ClinVar Miner

List of variants reported as pathogenic for Lesch-Nyhan syndrome

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Total variants: 43
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HGVS dbSNP
HPRT CHERMSIDE rs0
HPRT CHICAGO rs0
HPRT CONNERSVILLE rs0
HPRT COORPAROO rs0
HPRT MICHIGAN rs0
HPRT, 1-BP DEL, TTA-TA rs0
HPRT, 1-BP DEL, TTG-TG rs0
HPRT, 2-BP DEL, GT rs0
HPRT, 40-BP DEL rs0
HPRT, DEL rs0
HPRT, EX2-3DUP, IVS1DEL rs0
HPRT, EX2DEL rs0
HPRT, EX4-9DEL rs0
HPRT, EX9DEL rs0
HPRT, INV/DEL, EX6-9 rs0
HPRT,1-BP INS, 207G rs0
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del rs0
NM_000194.2(HPRT1):c.-707_27+2236del rs0
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.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.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.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.134G>A (p.Arg45Lys) rs137852491
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) rs786200980
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) rs1602741150
NM_000194.3(HPRT1):c.28-2A>T rs1569354918
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) rs1135401801
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
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+5G>A rs1569360089
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490

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