List of variants in gene SLC35A2 reported as pathogenic for disorder of multiple glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_48762413)_(48763384_?)del
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)	rs2147496735
NM_005660.3(SLC35A2):c.1A>G (p.Met1Val)	rs1042469070
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)	rs1042469070
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)	rs1569511572
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)	rs2147489736
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)	rs2063491273
NM_005660.3(SLC35A2):c.348del (p.Val117fs)	rs1557043131
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)	rs2147489558
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)	rs587776962
NM_005660.3(SLC35A2):c.426+1G>A	rs2147489491
NM_005660.3(SLC35A2):c.426+287_775del	rs1557042824
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs)	rs587777434
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)	rs1283637638
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)
NM_005660.3(SLC35A2):c.601del (p.Ala201fs)	rs2147487247
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)	rs1057518719
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)	rs1602338615
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)	rs587777436
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer)	rs2147487028
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)	rs868941656
NM_005660.3(SLC35A2):c.781del (p.Arg261fs)	rs2147486684
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)	rs2063479086
NM_005660.3(SLC35A2):c.92-12C>A
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)	rs2063477918
NM_005660.3(SLC35A2):c.972del (p.Phe324fs)	rs587777435
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)	rs587776961
NM_005660.3(SLC35A2):c.991_993del (p.Val331del)	rs2063477224
SLC35A2:c.15_91+48delinsA	rs1557044030

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