ClinVar Miner

List of variants reported as pathogenic for NTHL1-deficiency tumor predisposition syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.374dup (p.Leu126fs)
NM_002528.7(NTHL1):c.534del (p.Lys179fs)

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