ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory neuropathy-deafness-dementia syndrome

Coded as:
Minimum review status of the submission for Hereditary sensory neuropathy-deafness-dementia syndrome: Collection method of the submission for Hereditary sensory neuropathy-deafness-dementia syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1109 42 0 24 18 0 5 45

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.

All conditions
Hereditary sensory neuropathy-deafness-dementia syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 4 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 4 2 0 15 4
likely benign 0 0 15 0 23
benign 0 0 4 23 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Hereditary sensory neuropathy-deafness-dementia syndrome 1109 42 0 24 18 0 5 45

All variants with conflicting interpretations #

Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00107
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431 0.00039
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087 0.00038
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813 0.00024
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970 0.00024
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00023
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867 0.00019
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) rs184125970 0.00017
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239 0.00016
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339 0.00014
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007 0.00013
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp) rs144533539 0.00011
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044 0.00011
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464 0.00009
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230 0.00009
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414 0.00007
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) rs147755768 0.00006
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) rs370444117 0.00005
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) rs147118268 0.00005
NM_001130823.3(DNMT1):c.3117-4G>A rs781402268 0.00003
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) rs753248212 0.00002
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721 0.00002
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) rs762172122 0.00001
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) rs376854079 0.00001
NM_001130823.3(DNMT1):c.3117-8G>A rs769623856 0.00001
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) rs761140414 0.00001
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628 0.00001
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) rs779701784 0.00001
NM_001130823.3(DNMT1):c.4657-15G>A rs201805582 0.00001
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) rs760733624 0.00001
NM_001130823.3(DNMT1):c.1171-7C>T rs1168540279
NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) rs1599366542
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) rs1599366076
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699

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