ClinVar Miner

List of variants in gene HPRT1 reported as uncertain significance for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) rs137852489 0.00006
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln)
NM_000194.3(HPRT1):c.161T>C (p.Met54Thr)
NM_000194.3(HPRT1):c.184A>G (p.Ile62Val)
NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp) rs2124291425
NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr)
NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) rs2077653297
NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala)
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.486-3C>G rs2077687093
NM_000194.3(HPRT1):c.53A>G (p.Asp18Gly) rs2124290320
NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu)
NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys) rs2124305337
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.77A>C (p.Asn26Thr) rs762739119
NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser)

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