ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome 12 by Genetic Diseases Diagnostic Center,Koc University Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_002056.4(GFPT1):c.408+5G>A rs1558762013
NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) rs775399768

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