List of variants in gene SLC2A10 reported as uncertain significance for Familial thoracic aortic aneurysm and aortic dissection

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: 105

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)	rs150745395	0.00071
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)	rs563376340	0.00061
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)	rs142402955	0.00034
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)	rs139932041	0.00026
NM_030777.4(SLC2A10):c.*8G>A	rs375282462	0.00025
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)	rs144095826	0.00023
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys)	rs374854180	0.00021
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp)	rs201150247	0.00019
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)	rs201393026	0.00015
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys)	rs142577271	0.00014
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)	rs370141550	0.00012
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)	rs147710229	0.00011
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)	rs199912561	0.00010
NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg)	rs369865870	0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys)	rs562212724	0.00009
NM_030777.4(SLC2A10):c.1412-3C>T	rs374857656	0.00009
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)	rs763889166	0.00007
NM_030777.4(SLC2A10):c.484T>C (p.Trp162Arg)	rs755925085	0.00006
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)	rs774497964	0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val)	rs369484751	0.00006
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His)	rs770882223	0.00005
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)	rs367623970	0.00004
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)	rs753280877	0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly)	rs371261694	0.00004
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser)	rs959288629	0.00004
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)	rs145994112	0.00004
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser)	rs372166877	0.00003
NM_030777.4(SLC2A10):c.1331G>A (p.Arg444Gln)	rs148324236	0.00003
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)	rs199599532	0.00003
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn)	rs768345011	0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)	rs373375540	0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)	rs768142427	0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val)	rs776373143	0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)	rs763521707	0.00003
NM_030777.4(SLC2A10):c.1163G>A (p.Arg388Gln)	rs780660981	0.00002
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val)	rs140312420	0.00002
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys)	rs139858464	0.00002
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)	rs777604168	0.00002
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)	rs546176728	0.00001
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val)	rs754355572	0.00001
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)	rs1252274574	0.00001
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp)	rs775211875	0.00001
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)	rs369796310	0.00001
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met)	rs770619266	0.00001
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val)	rs775987124	0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile)	rs763979126	0.00001
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe)	rs199861432	0.00001
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn)	rs1269438372	0.00001
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys)	rs552106000	0.00001
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys)	rs377238665
NM_030777.4(SLC2A10):c.1018G>A (p.Gly340Ser)	rs1333501401
NM_030777.4(SLC2A10):c.1027G>C (p.Gly343Arg)
NM_030777.4(SLC2A10):c.1033T>C (p.Ser345Pro)
NM_030777.4(SLC2A10):c.1048G>C (p.Asp350His)
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)	rs200196034
NM_030777.4(SLC2A10):c.1080T>G (p.Asn360Lys)	rs772874942
NM_030777.4(SLC2A10):c.1093G>A (p.Glu365Lys)
NM_030777.4(SLC2A10):c.1162C>G (p.Arg388Gly)
NM_030777.4(SLC2A10):c.1192C>G (p.Pro398Ala)
NM_030777.4(SLC2A10):c.1252G>A (p.Val418Ile)
NM_030777.4(SLC2A10):c.1292C>A (p.Thr431Asn)
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
NM_030777.4(SLC2A10):c.1360T>A (p.Phe454Ile)	rs1980003027
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
NM_030777.4(SLC2A10):c.1411+5G>A
NM_030777.4(SLC2A10):c.1420G>A (p.Gly474Ser)
NM_030777.4(SLC2A10):c.152T>C (p.Val51Ala)
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
NM_030777.4(SLC2A10):c.1546C>T (p.Arg516Trp)
NM_030777.4(SLC2A10):c.1555C>G (p.Leu519Val)
NM_030777.4(SLC2A10):c.1564G>T (p.Gly522Cys)
NM_030777.4(SLC2A10):c.181G>A (p.Ala61Thr)
NM_030777.4(SLC2A10):c.194G>T (p.Gly65Val)
NM_030777.4(SLC2A10):c.251T>C (p.Val84Ala)
NM_030777.4(SLC2A10):c.251T>G (p.Val84Gly)
NM_030777.4(SLC2A10):c.26C>T (p.Pro9Leu)
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)	rs6094438
NM_030777.4(SLC2A10):c.325G>T (p.Gly109Cys)
NM_030777.4(SLC2A10):c.340C>T (p.Leu114Phe)
NM_030777.4(SLC2A10):c.4+6T>A
NM_030777.4(SLC2A10):c.430A>T (p.Thr144Ser)	rs748746893
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met)	rs772308135
NM_030777.4(SLC2A10):c.464A>C (p.Tyr155Ser)	rs1015767771
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)	rs540023880
NM_030777.4(SLC2A10):c.526G>A (p.Val176Ile)
NM_030777.4(SLC2A10):c.547C>T (p.Leu183Phe)
NM_030777.4(SLC2A10):c.566C>T (p.Thr189Ile)
NM_030777.4(SLC2A10):c.590A>G (p.Asp197Gly)	rs1158420839
NM_030777.4(SLC2A10):c.604C>G (p.Gln202Glu)
NM_030777.4(SLC2A10):c.624G>C (p.Lys208Asn)
NM_030777.4(SLC2A10):c.649T>C (p.Ser217Pro)
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys)	rs199659394
NM_030777.4(SLC2A10):c.686G>A (p.Arg229Gln)
NM_030777.4(SLC2A10):c.689G>A (p.Gly230Asp)
NM_030777.4(SLC2A10):c.697A>G (p.Thr233Ala)
NM_030777.4(SLC2A10):c.766A>G (p.Thr256Ala)
NM_030777.4(SLC2A10):c.784G>A (p.Gly262Ser)
NM_030777.4(SLC2A10):c.796G>A (p.Gly266Arg)
NM_030777.4(SLC2A10):c.848C>G (p.Ala283Gly)
NM_030777.4(SLC2A10):c.883G>A (p.Gly295Ser)
NM_030777.4(SLC2A10):c.890G>A (p.Arg297Lys)
NM_030777.4(SLC2A10):c.890G>C (p.Arg297Thr)
NM_030777.4(SLC2A10):c.922G>A (p.Ala308Thr)
NM_030777.4(SLC2A10):c.949G>C (p.Val317Leu)	rs781230863

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.