ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome 12 by Invitae

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.1882G>A (p.Val628Ile) rs190072721
NM_002056.4(GFPT1):c.816C>T (p.Arg272=) rs754486756
NM_002056.4(GFPT1):c.956-10A>G rs753072061
NM_002056.4(GFPT1):c.981G>A (p.Lys327=) rs373488949
NM_002056.4(GFPT1):c.987A>T (p.Ile329=) rs772941507

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