ClinVar Miner

List of variants in gene NTHL1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.234dup (p.Trp79fs) rs2150946400
NM_002528.7(NTHL1):c.239del (p.Glu80fs) rs2150946310
NM_002528.7(NTHL1):c.241_242insT (p.Pro81fs) rs2150946263
NM_002528.7(NTHL1):c.247del (p.Asp83fs) rs2150946170
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)

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