ClinVar Miner

List of variants studied for congenital myasthenic syndrome 12 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP
GFPT1, 1-BP DEL, NT621
NM_002056.3:c.223dupA
NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr)
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_002056.4(GFPT1):c.685+210G>A

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