List of variants in gene SLC35A2 reported as uncertain significance for congenital disorder of glycosylation type II

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu)	rs782745496	0.00006
NM_005660.3(SLC35A2):c.197T>C (p.Phe66Ser)	rs142990922	0.00005
NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)	rs140079332	0.00005
NM_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg)	rs782516328	0.00004
NM_005660.3(SLC35A2):c.1099C>A (p.Gln367Lys)	rs1452748811	0.00002
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)	rs782305321	0.00002
NM_005660.3(SLC35A2):c.497G>A (p.Arg166Gln)	rs374840868	0.00002
NM_005660.3(SLC35A2):c.56C>T (p.Ser19Phe)	rs781945687	0.00002
NM_005660.3(SLC35A2):c.1105C>T (p.Pro369Ser)	rs2063475090	0.00001
NM_005660.3(SLC35A2):c.176C>T (p.Thr59Met)	rs782218448	0.00001
NM_005660.3(SLC35A2):c.616G>A (p.Val206Ile)	rs1557042878	0.00001
NM_005660.3(SLC35A2):c.691G>A (p.Val231Met)	rs939923485	0.00001
NM_005660.3(SLC35A2):c.820G>A (p.Val274Met)	rs1340692327	0.00001
NM_005660.3(SLC35A2):c.982G>A (p.Ala328Thr)	rs782485193	0.00001
NM_005660.2(SLC35A2):c.-15C>A
NM_005660.3(SLC35A2):c.101G>A (p.Arg34His)	rs1199079627
NM_005660.3(SLC35A2):c.1021C>T (p.Pro341Ser)
NM_005660.3(SLC35A2):c.1030G>A (p.Ala344Thr)	rs369861178
NM_005660.3(SLC35A2):c.1030G>T (p.Ala344Ser)
NM_005660.3(SLC35A2):c.1050TGCCTC[3] (p.349AS[5])	rs781977360
NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)
NM_005660.3(SLC35A2):c.1070G>C (p.Gly357Ala)
NM_005660.3(SLC35A2):c.1073C>T (p.Pro358Leu)	rs2147485349
NM_005660.3(SLC35A2):c.1078G>C (p.Val360Leu)
NM_005660.3(SLC35A2):c.1090C>T (p.Pro364Ser)
NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp)	rs782329380
NM_005660.3(SLC35A2):c.1097G>A (p.Gly366Glu)
NM_005660.3(SLC35A2):c.1118T>C (p.Leu373Pro)
NM_005660.3(SLC35A2):c.112A>T (p.Ile38Leu)	rs782268788
NM_005660.3(SLC35A2):c.11_16del (p.Val4_Gly5del)
NM_005660.3(SLC35A2):c.179T>C (p.Leu60Ser)
NM_005660.3(SLC35A2):c.191G>A (p.Arg64His)
NM_005660.3(SLC35A2):c.194T>C (p.Phe65Ser)	rs2147496567
NM_005660.3(SLC35A2):c.200C>T (p.Ala67Val)
NM_005660.3(SLC35A2):c.236G>T (p.Gly79Val)	rs1057524438
NM_005660.3(SLC35A2):c.275-9C>A	rs2063492138
NM_005660.3(SLC35A2):c.288C>G (p.His96Gln)
NM_005660.3(SLC35A2):c.31G>T (p.Ala11Ser)	rs927789077
NM_005660.3(SLC35A2):c.35C>G (p.Ala12Gly)	rs1557044100
NM_005660.3(SLC35A2):c.38C>T (p.Pro13Leu)
NM_005660.3(SLC35A2):c.458C>T (p.Ala153Val)
NM_005660.3(SLC35A2):c.484C>T (p.Arg162Cys)
NM_005660.3(SLC35A2):c.520C>T (p.Leu174Phe)
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)	rs1283637638
NM_005660.3(SLC35A2):c.535G>A (p.Val179Ile)	rs1060503676
NM_005660.3(SLC35A2):c.568G>A (p.Gly190Arg)
NM_005660.3(SLC35A2):c.571G>A (p.Gly191Ser)
NM_005660.3(SLC35A2):c.580C>A (p.Pro194Thr)	rs1181948827
NM_005660.3(SLC35A2):c.595C>G (p.Pro199Ala)
NM_005660.3(SLC35A2):c.616G>T (p.Val206Phe)
NM_005660.3(SLC35A2):c.619G>A (p.Val207Met)	rs782078023
NM_005660.3(SLC35A2):c.652G>A (p.Val218Ile)
NM_005660.3(SLC35A2):c.685G>A (p.Gly229Ser)	rs2063481208
NM_005660.3(SLC35A2):c.700C>T (p.Arg234Cys)	rs2063481027
NM_005660.3(SLC35A2):c.718C>T (p.Leu240Phe)
NM_005660.3(SLC35A2):c.73C>A (p.Pro25Thr)
NM_005660.3(SLC35A2):c.757G>A (p.Ala253Thr)
NM_005660.3(SLC35A2):c.769G>A (p.Ala257Thr)	rs2063480406
NM_005660.3(SLC35A2):c.775G>A (p.Ala259Thr)
NM_005660.3(SLC35A2):c.781C>T (p.Arg261Cys)	rs1557042814
NM_005660.3(SLC35A2):c.782G>A (p.Arg261His)
NM_005660.3(SLC35A2):c.841G>A (p.Gly281Ser)	rs2063479133
NM_005660.3(SLC35A2):c.842G>T (p.Gly281Val)
NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)	rs1602338059
NM_005660.3(SLC35A2):c.8C>A (p.Ala3Glu)
NM_005660.3(SLC35A2):c.905C>T (p.Ser302Phe)
NM_005660.3(SLC35A2):c.918_929dup (p.Val310_Ala311insLeuSerThrVal)
NM_005660.3(SLC35A2):c.92-12C>A
NM_005660.3(SLC35A2):c.938T>C (p.Ile313Thr)
NM_005660.3(SLC35A2):c.940C>T (p.Arg314Cys)
NM_005660.3(SLC35A2):c.955C>T (p.His319Tyr)	rs2063477835
NM_005660.3(SLC35A2):c.962A>G (p.Asp321Gly)
NM_005660.3(SLC35A2):c.998G>A (p.Gly333Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.