ClinVar Miner

List of variants studied for congenital myasthenic syndrome 1A by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)
NM_000080.4(CHRNE):c.1327del rs763258280

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