ClinVar Miner

List of variants in gene HPRT1 reported as likely pathogenic for Lesch-Nyhan syndrome

Included ClinVar conditions (2):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.481G>T (p.Ala161Ser) rs137852484
NM_000194.3(HPRT1):c.134+1G>C rs2124290378
NM_000194.3(HPRT1):c.28-2A>G
NM_000194.3(HPRT1):c.384+1G>T rs398123240
NM_000194.3(HPRT1):c.402+1229A>G
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) rs137852484
NM_000194.3(HPRT1):c.532+1_532+2del rs2124305218
NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr)
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) rs137852490

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