ClinVar Miner

Variants in gene KCNMA1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_001161352.2(KCNMA1):c.378+302G>A rs76903211 0.02905
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280 0.01852
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 0.01731
NM_001161352.2(KCNMA1):c.378+771G>C rs139968359 0.01007
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 0.00151
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694 0.00097
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504 0.00032
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190 0.00004
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.