ClinVar Miner

List of variants studied for Familial adenomatous polyposis 3 by MGZ Medical Genetics Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)	rs148104494	0.00086
NM_002528.7(NTHL1):c.526-1G>A	rs779757251	0.00008
NM_002528.7(NTHL1):c.116-9T>A	rs1596223613
NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys)	rs756403102

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