ClinVar Miner

List of variants studied for congenital myasthenic syndrome 9 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211

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