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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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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	rs1569354918
NM_000194.3(HPRT1):c.384+1G>T	rs398123240
NM_000194.3(HPRT1):c.402+1229A>G	rs1247346147
NM_000194.3(HPRT1):c.416C>A (p.Thr139Asn)
NM_000194.3(HPRT1):c.47G>C (p.Gly16Ala)
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)	rs137852484
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)	rs137852497
NM_000194.3(HPRT1):c.532+1_532+2del	rs2124305218
NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr)	rs267606863
NM_000194.3(HPRT1):c.598del (p.Arg200fs)
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
NM_000194.3(HPRT1):c.619_620del (p.Val207fs)

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