ClinVar Miner

List of variants studied for Lesch-Nyhan syndrome by Invitae

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP
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_000194.3(HPRT1):c.124_127del (p.Ile42fs)
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.22_27+28del
NM_000194.3(HPRT1):c.319-2A>G rs1602745376
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) rs369065223
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)
NM_000194.3(HPRT1):c.486-2A>G
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) rs137852490
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) rs1602750626
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) rs1602750635

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