ClinVar Miner

List of variants in gene combination CHRNA4, LOC100130587 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000744.6(CHRNA4):c.20G>C (p.Gly7Ala)
NM_000744.6(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.6(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516
NM_000744.6(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.6(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944

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