ClinVar Miner

List of variants in gene HPRT1 reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys)	rs1602741150
NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro)	rs2124291470

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