List of variants reported as likely pathogenic for DPAGT1-congenital disorder of glycosylation

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)	rs776720609	0.00004
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)	rs762796464	0.00001
NM_001382.4(DPAGT1):c.643+2T>C	rs774754436	0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	rs772988029	0.00001
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)	rs1592225374
NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)	rs387907243
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)	rs768464558
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)	rs768464558
NM_001382.4(DPAGT1):c.643+1G>A	rs2134910617
NM_001382.4(DPAGT1):c.644-1G>T	rs2134903748
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)	rs1450090350
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	rs397515328

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