ClinVar Miner

List of variants in gene HPRT1 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000194.3(HPRT1):c.134+6_134+9del	rs794727238
NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro)	rs1556026984
NM_000194.3(HPRT1):c.178C>T (p.His60Tyr)	rs2077621598

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