ClinVar Miner

List of variants studied for neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter) rs377626365 0.00003
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter) rs1171802070 0.00001

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