ClinVar Miner

List of variants in gene POLH reported as pathogenic for Xeroderma pigmentosum

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_006502.3(POLH):c.1078dup (p.Asp360fs)	rs1277794845	0.00003
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)	rs767433001	0.00002

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