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

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	rs643788	0.38193
NM_001382.4(DPAGT1):c.*184G>A	rs8551	0.37865
NM_001382.4(DPAGT1):c.*417T>C	rs7759	0.29923
NM_000190.4(HMBS):c.606G>T (p.Val202=)	rs1131488	0.23280
NM_001382.4(DPAGT1):c.*427T>G	rs28990975	0.01379
NM_001382.4(DPAGT1):c.*265A>G	rs28990974	0.00029

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