ClinVar Miner

List of variants reported as pathogenic for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome

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Total variants: 35
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HGVS dbSNP gnomAD frequency
HPRT CHERMSIDE rs2077673385
NC_000023.10:g.(?_132670132)_(133634127_?)del
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.209G>A (p.Gly70Glu) rs137852487
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.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.200_201dup (p.Leu68fs)
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.22_27+28del rs2077579380
NM_000194.3(HPRT1):c.289_290del (p.Val97fs)
NM_000194.3(HPRT1):c.319-2A>G rs1602745376
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.333_334del (p.Asp113fs)
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) rs369065223
NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr)
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.486-1G>A rs398123241
NM_000194.3(HPRT1):c.486-2A>G rs2077687102
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
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.611A>T (p.His204Leu)

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