ClinVar Miner

List of variants in gene NTHL1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) rs1285624591 0.00001
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278

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