ClinVar Miner

List of variants studied for congenital myasthenic syndrome 4B by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16257
NM_000080.4(CHRNE):c.1220-45C>T rs75492003 0.09239
NM_000080.4(CHRNE):c.46+64G>A rs12602789 0.08447
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07414
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582

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