List of variants studied for NTHL1-deficiency tumor predisposition syndrome

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Total variants: 6

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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
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)
NM_002528.7(NTHL1):c.792-3C>T	rs3087467

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