List of variants in gene GFPT1 studied for Congenital Myasthenic Syndrome, Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001244710.2(GFPT1):c.2056-10del	rs372477414	0.00015
NM_001244710.2(GFPT1):c.*5354G>A	rs113138427	0.00003
NM_001244710.2(GFPT1):c.*1974CA[8]	rs751417979
NM_001244710.2(GFPT1):c.*2510del	rs370178312
NM_001244710.2(GFPT1):c.*3805del	rs35829957
NM_001244710.2(GFPT1):c.3987_3989del	rs141942218
NM_001244710.2(GFPT1):c.5195_5199delinsTGTCTTTTTTATA	rs886056235
NM_001244710.2(GFPT1):c.*5288TC[9]	rs747325928
NM_001244710.2(GFPT1):c.*5401dup	rs879750913
NM_001244710.2(GFPT1):c.*5901del	rs886056231
NM_001244710.2(GFPT1):c.1324+13del	rs113734896
NM_001244710.2(GFPT1):c.2056-11del	rs201268947
NM_001244710.2(GFPT1):c.2056-12_2056-11del	rs201268947

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