ClinVar Miner

List of variants in gene KCNC2 reported as likely pathogenic for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
NM_139137.4(KCNC2):c.1210G>A (p.Glu404Lys)
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly) rs2136944093
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser) rs1881066861
NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)

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