ClinVar Miner

List of variants studied for SLC35A2-congenital disorder of glycosylation by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile) rs587776962
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs) rs587777434
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe) rs587777436
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
NM_005660.3(SLC35A2):c.972del (p.Phe324fs) rs587777435
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
SLC35A2:c.15_91+48delinsA rs1557044030

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