ClinVar Miner

List of variants studied for DPAGT1-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 31
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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_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=) rs62641715 0.00117
NM_001382.4(DPAGT1):c.*241T>C rs74657539 0.00109
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_001382.4(DPAGT1):c.-152C>T rs540454811 0.00061
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_001382.4(DPAGT1):c.-46C>T rs186992584 0.00010
NM_001382.4(DPAGT1):c.*390A>G rs970354016 0.00008
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.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.-39C>T rs749047996 0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.*386G>A rs982028493 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_001382.4(DPAGT1):c.*369A>G rs886047759
NM_001382.4(DPAGT1):c.*379G>T rs886047758
NM_001382.4(DPAGT1):c.*484T>C rs886047757
NM_001382.4(DPAGT1):c.-76G>T rs1946515312
NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val) rs1946507643

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