ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
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.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

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