ClinVar Miner

List of variants in gene GNE reported as benign for GNE myopathy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_005476.7(GNE):c.*2391C>T rs1043313 0.71766
NM_005476.7(GNE):c.*1781G>A rs16933086 0.17302
NM_005476.7(GNE):c.1817-81G>C rs2296817 0.15990
NM_005476.7(GNE):c.*1826G>C rs7044157 0.10230
NM_005476.7(GNE):c.*630C>T rs150102934 0.03992
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.*1054C>A rs7048468 0.01927
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_005476.7(GNE):c.*1068A>T rs187875852 0.00423
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.1633+17dup

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