ClinVar Miner

List of variants studied for DPAGT1-CDG

Included ClinVar conditions (2):
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Total variants: 37
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HGVS dbSNP
NM_001382.4(DPAGT1):c.1005+6A>T
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649
NM_001382.4(DPAGT1):c.161+5G>A rs397515322
NM_001382.4(DPAGT1):c.161+6C>T rs762402071
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn) rs397514586
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) rs397515327
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro) rs397515329
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) rs863225088
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
NM_001382.4(DPAGT1):c.729-4A>C rs199873583
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
NM_001382.4(DPAGT1):c.918-10C>A
NM_001382.4(DPAGT1):c.918-4G>A rs201656540
NM_001382.4(DPAGT1):c.918-8C>T rs531346717
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311

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