ClinVar Miner

Variants with conflicting interpretations studied for Transitory neonatal diabetes mellitus

Coded as:
Minimum review status of the submission for Transitory neonatal diabetes mellitus: Collection method of the submission for Transitory neonatal diabetes mellitus:
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
406 28 0 2 49 0 3 54

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
Transitory neonatal diabetes mellitus pathogenic likely pathogenic likely benign benign
likely pathogenic 1 0 0 0
uncertain significance 1 1 14 35
benign 1 0 1 0

Condition to condition summary #

Total conditions: 2
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
Diabetes mellitus, transient neonatal, 2 0 28 0 1 49 0 2 52
Diabetes mellitus, transient neonatal, 3 0 0 0 1 0 0 1 2

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625

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