ClinVar Miner

List of variants in gene NTHL1 reported as uncertain significance for NTHL1-deficiency tumor predisposition syndrome

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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_002528.7(NTHL1):c.274C>T (p.Arg92Cys)	rs148104494	0.00090
NM_002528.7(NTHL1):c.176C>T (p.Ala59Val)	rs749810824	0.00002

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