ClinVar Miner

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

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000194.3(HPRT1):c.384+19A>G rs183698879 0.00164
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.102G>A (p.Arg34=)
NM_000194.3(HPRT1):c.117T>C (p.His39=)
NM_000194.3(HPRT1):c.134+12C>G
NM_000194.3(HPRT1):c.134+18A>G
NM_000194.3(HPRT1):c.141A>G (p.Glu47=)
NM_000194.3(HPRT1):c.174A>T (p.Gly58=)
NM_000194.3(HPRT1):c.177C>T (p.Gly59=)
NM_000194.3(HPRT1):c.204C>G (p.Leu68=)
NM_000194.3(HPRT1):c.21C>A (p.Gly7=)
NM_000194.3(HPRT1):c.21C>T (p.Gly7=)
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.28-15A>G
NM_000194.3(HPRT1):c.28-19A>G
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.319-7T>C
NM_000194.3(HPRT1):c.319-8_319-7dup rs371480320
NM_000194.3(HPRT1):c.336G>A (p.Gly112=)
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+8C>G
NM_000194.3(HPRT1):c.403-17G>A
NM_000194.3(HPRT1):c.403-7T>A
NM_000194.3(HPRT1):c.417T>C (p.Thr139=)
NM_000194.3(HPRT1):c.485+15T>A
NM_000194.3(HPRT1):c.492G>C (p.Leu164=)
NM_000194.3(HPRT1):c.504C>T (p.Thr168=)
NM_000194.3(HPRT1):c.519A>C (p.Gly173=)
NM_000194.3(HPRT1):c.532+18T>C
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.546A>G (p.Glu182=) rs2124305311
NM_000194.3(HPRT1):c.57T>G (p.Leu19=)
NM_000194.3(HPRT1):c.610-4A>G
NM_000194.3(HPRT1):c.615T>C (p.Val205=)
NM_000194.3(HPRT1):c.69C>T (p.Cys23=) rs2077615705

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