ClinVar Miner

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

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level:
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: 4

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HGVS	dbSNP
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)

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