ClinVar Miner

List of variants reported as likely benign for SLC35A1-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_006416.5(SLC35A1):c.355-7T>C rs774147829 0.00058
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.512A>G (p.Glu171Gly) rs146938059 0.00012
NM_006416.5(SLC35A1):c.194+18T>C rs189860204 0.00011
NM_006416.5(SLC35A1):c.378G>A (p.Pro126=) rs754174147 0.00003
NM_006416.5(SLC35A1):c.400T>C (p.Leu134=) rs866423704 0.00002
NM_006416.5(SLC35A1):c.195-16C>G rs1312719648 0.00001
NM_006416.5(SLC35A1):c.558G>A (p.Leu186=) rs368921086 0.00001
NM_006416.5(SLC35A1):c.574+17T>C rs762267204 0.00001
NM_006416.5(SLC35A1):c.960T>G (p.Thr320=) rs775081181 0.00001
NM_006416.5(SLC35A1):c.963A>G (p.Thr321=) rs371513987 0.00001
NM_006416.5(SLC35A1):c.194+17A>G rs779011433
NM_006416.5(SLC35A1):c.300T>C (p.Val100=) rs2482846768
NM_006416.5(SLC35A1):c.355-11_355-8del rs750153505
NM_006416.5(SLC35A1):c.48C>T (p.Cys16=) rs2127962762
NM_006416.5(SLC35A1):c.508-10A>G rs2482861282
NM_006416.5(SLC35A1):c.546T>C (p.Ala182=) rs2127976715
NM_006416.5(SLC35A1):c.575-11T>C
NM_006416.5(SLC35A1):c.699T>C (p.Ile233=) rs150233994
NM_006416.5(SLC35A1):c.752-7A>G rs896891254
NM_006416.5(SLC35A1):c.752-9G>T rs777227478
NM_006416.5(SLC35A1):c.887-20A>T rs1020368481
NM_006416.5(SLC35A1):c.887-8C>T rs1372861855

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