ClinVar Miner

List of variants studied for congenital myasthenic syndrome 4B by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile) rs1970039895
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile) rs771950733
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg) rs1490577163

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