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

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		ClinVar version:

Total variants: 100

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.*427T>G	rs28990975	0.01379
NM_001382.4(DPAGT1):c.918-18G>A	rs145206990	0.00859
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	rs138544311	0.00172
NM_001382.4(DPAGT1):c.918-4G>A	rs201656540	0.00073
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)	rs199994118	0.00061
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.728+9G>A	rs369353136	0.00014
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)	rs377263230	0.00008
NM_001382.4(DPAGT1):c.351A>G (p.Val117=)	rs146610900	0.00006
NM_001382.4(DPAGT1):c.644-10G>A	rs192269738	0.00005
NM_001382.4(DPAGT1):c.162-6C>T	rs761454590	0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=)	rs756818317	0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)	rs773853061	0.00004
NM_001382.4(DPAGT1):c.283-9C>T	rs746355462	0.00003
NM_001382.4(DPAGT1):c.496+17C>T	rs749725470	0.00003
NM_001382.4(DPAGT1):c.644-15T>A	rs749199504	0.00003
NM_001382.4(DPAGT1):c.918-8C>T	rs531346717	0.00003
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)	rs780625734	0.00002
NM_001382.4(DPAGT1):c.497-5C>T	rs556782038	0.00002
NM_001382.4(DPAGT1):c.1006-8C>G	rs1357255095	0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)	rs761911331	0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)	rs768805817	0.00001
NM_001382.4(DPAGT1):c.1161+10G>A	rs761082821	0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)	rs747073447	0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)	rs746759603	0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)	rs772133269	0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)	rs200588529	0.00001
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.471G>A (p.Pro157=)	rs376528767	0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=)	rs778726543	0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=)	rs767551785	0.00001
NM_001382.4(DPAGT1):c.643+14G>C	rs536452844	0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)	rs1371529040	0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)	rs780516960	0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)	rs1432186196	0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	rs779048359	0.00001
NM_001382.4(DPAGT1):c.1006-6C>T	rs2134898608
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)	rs1946413563
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)	rs1442358846
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)	rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T	rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+9G>A	rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
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.283-13G>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=)	rs200885014
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)	rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A	rs771175893
NM_001382.4(DPAGT1):c.497-4G>C	rs771175893
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del	rs750678639
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=)	rs2134903738
NM_001382.4(DPAGT1):c.663T>C (p.His221=)	rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=)	rs1592226752
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)	rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.810C>T (p.His270=)	rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)	rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=)	rs756625547
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=)	rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)	rs2134899492
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)	rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)

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