List of variants in gene DPAGT1 studied for Congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)	rs772211450	0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)	rs28934876	0.00002
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	rs863225088	0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	rs772988029	0.00001
NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala)	rs1210999092
NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter)	rs1946406410
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)	rs397515327
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)	rs1185483085
NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys)	rs777142166

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