ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome 12

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_001244710.1(GFPT1):c.549T>C (p.Gly183=) rs144566433
NM_001244710.1(GFPT1):c.675C>T (p.Leu225=) rs78952091
NM_002056.4(GFPT1):c.224-10T>C rs777508704
NM_002056.4(GFPT1):c.408+7A>T rs112682152

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