ClinVar Miner

List of variants in gene combination EMC4, SLC12A6 reported as uncertain significance for agenesis of the corpus callosum with peripheral neuropathy

Included ClinVar conditions (1):
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_001365088.1(SLC12A6):c.*3842G>T rs552491692 0.00061
NM_001365088.1(SLC12A6):c.*3755T>C rs557606663 0.00028
NM_001365088.1(SLC12A6):c.*3807_*3808del rs886051035 0.00003
NM_001365088.1(SLC12A6):c.*3731dup rs566558212
NM_001365088.1(SLC12A6):c.*3828T>G rs1890819378

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