ClinVar Miner

List of variants in gene CLCN2, LOC129938055 studied for Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.17C>T (p.Ala6Val)
NM_004366.6(CLCN2):c.2T>C (p.Met1Thr)
NM_004366.6(CLCN2):c.38G>C (p.Arg13Pro)
NM_004366.6(CLCN2):c.63+4A>G

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