ClinVar Miner

List of variants in gene SLC35A1 studied for congenital disorder of glycosylation type II

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006416.5(SLC35A1):c.-18G>C rs9450704 0.59575
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_006416.5(SLC35A1):c.355-7T>C rs774147829 0.00059
NM_006416.5(SLC35A1):c.556T>C (p.Leu186=) rs147999550 0.00043
NM_006416.5(SLC35A1):c.507+8A>G rs201797109 0.00024
NM_006416.5(SLC35A1):c.258G>A (p.Lys86=) rs147860973 0.00017
NM_006416.5(SLC35A1):c.194+18T>C rs189860204 0.00011
NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg) rs201507608 0.00010
NM_006416.5(SLC35A1):c.512A>G (p.Glu171Gly) rs146938059 0.00008
NM_006416.5(SLC35A1):c.16+19G>A rs144960751 0.00007
NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp) rs200065902 0.00004
NM_006416.5(SLC35A1):c.378G>A (p.Pro126=) rs754174147 0.00002
NM_006416.5(SLC35A1):c.400T>C (p.Leu134=) rs866423704 0.00002
NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile) rs768492481 0.00001
NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe) rs76193993 0.00001
NM_006416.5(SLC35A1):c.379T>A (p.Cys127Ser) rs1242388466 0.00001
NM_006416.5(SLC35A1):c.558G>A (p.Leu186=) rs368921086 0.00001
NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser) rs763621828 0.00001
NM_006416.5(SLC35A1):c.960T>G (p.Thr320=) rs775081181 0.00001
NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]
NM_006416.5(SLC35A1):c.194+17A>G
NM_006416.5(SLC35A1):c.195-16C>G
NM_006416.5(SLC35A1):c.300T>C (p.Val100=)
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His) rs1554166294
NM_006416.5(SLC35A1):c.355-11_355-8del
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg) rs578205635
NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter)
NM_006416.5(SLC35A1):c.48C>T (p.Cys16=) rs2127962762
NM_006416.5(SLC35A1):c.508-10A>G
NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del)
NM_006416.5(SLC35A1):c.546T>C (p.Ala182=) rs2127976715
NM_006416.5(SLC35A1):c.574+17T>C
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys) rs1554166844
NM_006416.5(SLC35A1):c.639G>A (p.Met213Ile)
NM_006416.5(SLC35A1):c.699T>C (p.Ile233=)
NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met) rs150233994
NM_006416.5(SLC35A1):c.752-7A>G rs896891254
NM_006416.5(SLC35A1):c.752-9G>T rs777227478
NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro) rs1484245900
NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu) rs550275644
NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr)
NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met)
NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu) rs2127977717
NM_006416.5(SLC35A1):c.887-20A>T
NM_006416.5(SLC35A1):c.887-8C>T rs1372861855
NM_006416.5(SLC35A1):c.887-9del rs747644865
NM_006416.5(SLC35A1):c.887-9dup rs747644865
NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser) rs2127978566
NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)

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