ClinVar Miner

List of variants reported for Congenital disorder of glycosylation by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_019109.5(ALG1):c.1072G>C (p.Gly358Arg) rs886042742 0.00004
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly) rs863225088 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp) rs16835020 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) rs1180515976 0.00001
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NC_000016.10:g.5071998A>G rs794726944
NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del) rs2147626590
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) rs1569508922
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala) rs1210999092
NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) rs1946508324
NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter) rs1946406410
NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr) rs1946512581
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly) rs397515327
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys) rs777142166
NM_007107.5(SSR3):c.278_281del (p.Glu93fs) rs1719856599
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1088G>C (p.Gly363Ala) rs1596261161
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.1101C>G (p.His367Gln) rs1428414601
NM_019109.5(ALG1):c.1145T>A (p.Met382Lys) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.209-1G>C rs1270276368
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.342G>C (p.Leu114Phe) rs1596252196
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.626T>G (p.Ile209Ser) rs1596256204
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.961+1G>C rs373355236
NM_024592.5(SRD5A3):c.921G>C (p.Pro307=) rs763516132

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