ClinVar Miner

List of variants in gene KCNV2 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_133497.4(KCNV2):c.795C>G (p.Ala265=) rs12237048 0.45225
NM_133497.4(KCNV2):c.759A>G (p.Pro253=) rs10967709 0.10241
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile) rs74587818 0.00669
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_133497.4(KCNV2):c.144G>A (p.Glu48=) rs79889344 0.00297
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_133497.4(KCNV2):c.957G>A (p.Leu319=) rs141378856 0.00053
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu) rs146659188 0.00014
NM_133497.4(KCNV2):c.1262G>A (p.Gly421Asp) rs563513486 0.00011
NM_133497.4(KCNV2):c.168G>A (p.Glu56=) rs201975160 0.00010
NM_133497.4(KCNV2):c.721C>T (p.Pro241Ser) rs727503975 0.00008
NM_133497.4(KCNV2):c.706A>G (p.Met236Val) rs375765488 0.00005
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_133497.4(KCNV2):c.216A>C (p.Ala72=) rs764552497
NM_133497.4(KCNV2):c.309G>A (p.Val103=) rs775691897
NM_133497.4(KCNV2):c.867G>T (p.Ser289=) rs765405789

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.