ClinVar Miner

Variants in gene KCNMA1 with conflicting interpretations

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
400 20 0 14 21 1 1 34

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 association
pathogenic 0 1 0 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 1 0 19 3 1
likely benign 0 0 19 0 13 0
benign 0 0 3 13 0 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097
Single allele

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