ClinVar Miner

List of variants in gene NTHL1 reported as likely pathogenic

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Total variants: 58
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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.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.604G>T (p.Glu202Ter) rs919177150 0.00003
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002528.7(NTHL1):c.791+1G>A rs374616565 0.00002
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter) rs2084372140 0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) rs374489979 0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter) rs1198246754 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NC_000016.9:g.(?_2089925)_(2090249_?)del
NC_000016.9:g.(?_2089925)_(2093737_?)del
NC_000016.9:g.(?_2093854)_(2096278_?)del
NM_002528.7(NTHL1):c.115+2T>G
NM_002528.7(NTHL1):c.116-13_172del rs2150947077
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.116-1_116delinsCT rs2084387940
NM_002528.7(NTHL1):c.116-2A>C
NM_002528.7(NTHL1):c.116-2A>G
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs) rs1290880136
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
NM_002528.7(NTHL1):c.203del (p.Gly68fs) rs1555492819
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.232del (p.Val78fs) rs1314290585
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.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.354+2T>C rs1239874051
NM_002528.7(NTHL1):c.35_48dup (p.Pro17fs)
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs) rs1596220478
NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)
NM_002528.7(NTHL1):c.426_445del (p.Met143fs)
NM_002528.7(NTHL1):c.42_43del (p.Leu15fs)
NM_002528.7(NTHL1):c.507C>A (p.Tyr169Ter)
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.525+1G>A rs1596220242
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.526-1G>T rs779757251
NM_002528.7(NTHL1):c.530del (p.Lys177fs)
NM_002528.7(NTHL1):c.545dup (p.Gln183fs)
NM_002528.7(NTHL1):c.625_626del (p.Val209fs) rs2150941243
NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln) rs1247089981
NM_002528.7(NTHL1):c.686-2A>G rs2150938461
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter) rs2150938327
NM_002528.7(NTHL1):c.763del (p.Arg255fs)
NM_002528.7(NTHL1):c.786_791+20del
NM_002528.7(NTHL1):c.791+2T>C rs2084241095
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.792-2A>G rs2150937989
NM_002528.7(NTHL1):c.796_808del (p.Leu266fs)
NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)

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