ClinVar Miner

List of variants in gene GNE reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.36277137G>A
NC_000009.12:g.36277174C>T
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128227.3(GNE):c.51+17T>G rs144416128
NM_001128227.3(GNE):c.51+34T>C rs7875447
NM_001128227.3(GNE):c.51+63A>G
NM_005476.7(GNE):c.1070+5G>A rs374170125
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1233C>T (p.Ala411=) rs1057523203
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
NM_005476.7(GNE):c.1281+44G>A rs16933102
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1282-155C>T
NM_005476.7(GNE):c.1282-302G>A
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388
NM_005476.7(GNE):c.1412-5C>T rs369078814
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs) rs1554658924
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1633+125G>C
NM_005476.7(GNE):c.1633+237C>T
NM_005476.7(GNE):c.1633+341G>T
NM_005476.7(GNE):c.1634-117A>G
NM_005476.7(GNE):c.165-115A>G
NM_005476.7(GNE):c.165-18A>G rs374105190
NM_005476.7(GNE):c.165-9C>T rs760509369
NM_005476.7(GNE):c.1710_1712TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter) rs111302956
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1817-81G>C
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140
NM_005476.7(GNE):c.1933+162G>C
NM_005476.7(GNE):c.1934-201C>T
NM_005476.7(GNE):c.1978A>G (p.Met660Val) rs1554658048
NM_005476.7(GNE):c.2029C>T (p.His677Tyr) rs527267621
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950
NM_005476.7(GNE):c.616+269T>C
NM_005476.7(GNE):c.617-260A>C
NM_005476.7(GNE):c.617-298T>C
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005476.7(GNE):c.765C>T (p.Asp255=) rs775805166
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766
NM_005476.7(GNE):c.983-273G>A

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.