ClinVar Miner

Variants in gene NTHL1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1241 185 0 29 42 0 2 70

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 21 1 0 0
likely pathogenic 21 0 2 0 0
uncertain significance 1 2 0 42 2
likely benign 0 0 42 0 8
benign 0 0 2 8 0

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.503T>C (p.Ile168Thr) rs1805378 0.00155
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.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_002528.7(NTHL1):c.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.115+17G>A rs377258199 0.00010
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 0.00009
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu) rs367629024 0.00009
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.170G>A (p.Arg57His) rs774831009 0.00005
NM_002528.7(NTHL1):c.111A>G (p.Ala37=) rs779229970 0.00004
NM_002528.7(NTHL1):c.188C>T (p.Ser63Leu) rs746458904 0.00004
NM_002528.7(NTHL1):c.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter) rs919177150 0.00003
NM_002528.7(NTHL1):c.686-7C>G rs529341502 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.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.146G>A (p.Arg49His) rs566254536 0.00001
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val) rs767282292 0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter) rs2084372140 0.00001
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) rs1169048585 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.519C>T (p.Phe173=) rs1401228518 0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) rs745383145 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.690G>A (p.Val230=) rs756156987 0.00001
NM_002528.7(NTHL1):c.717C>T (p.Asn239=) rs1475205147 0.00001
NM_002528.7(NTHL1):c.834C>T (p.Gly278=) rs747049346 0.00001
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.-5C>G rs552723791
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
NM_002528.7(NTHL1):c.115+10C>T rs756945300
NM_002528.7(NTHL1):c.115+4G>A rs780886475
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.229C>T (p.Pro77Ser) rs1364808920
NM_002528.7(NTHL1):c.232del (p.Val78fs) rs1314290585
NM_002528.7(NTHL1):c.330C>T (p.Cys110=) rs2150945100
NM_002528.7(NTHL1):c.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs) rs1596220478
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.525+10G>A rs2150942168
NM_002528.7(NTHL1):c.526-10T>G rs199771569
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
NM_002528.7(NTHL1):c.625_626del (p.Val209fs) rs2150941243
NM_002528.7(NTHL1):c.686-9T>C rs1213514224
NM_002528.7(NTHL1):c.705C>T (p.His235=) rs992194912
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile) rs577781337
NM_002528.7(NTHL1):c.792-3C>T rs3087467

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