ClinVar Miner

List of variants in gene NTHL1 reported as benign

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.355-264A>G rs2516726 0.33796
NM_002528.7(NTHL1):c.116-17C>T rs2233518 0.01075
NM_002528.7(NTHL1):c.116-37T>C rs3211968 0.00990
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00366
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_002528.7(NTHL1):c.115+17G>A rs377258199 0.00010
NM_002528.7(NTHL1):c.843C>A (p.Thr281=) rs779198160 0.00001
NM_002528.7(NTHL1):c.900C>T (p.Ala300=) rs569494714 0.00001
NM_002528.7(NTHL1):c.116-5del
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.791+18dup rs775389995
NM_002528.7(NTHL1):c.792-11del rs2150938017
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.792-5del rs1467923975

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