List of variants in gene combination DPAGT1, LOC126861360 reported as likely benign for neuromuscular junction disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)	rs138519099	0.00034
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)	rs112355069	0.00021
NM_001382.4(DPAGT1):c.162-6C>T	rs761454590	0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)	rs773853061	0.00004
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)	rs780625734	0.00002
NM_001382.4(DPAGT1):c.162-20C>T	rs749879111	0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)	rs1438468092	0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)	rs200991527	0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	rs779048359	0.00001
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C	rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G	rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G	rs749879111
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.276C>T (p.His92=)	rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A	rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)	rs1020413992
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)	rs145055477
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)

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