ClinVar Miner

List of variants studied for GNE myopathy by Genome-Nilou Lab

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_005476.7(GNE):c.1817-81G>C rs2296817 0.15990
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_005476.7(GNE):c.710T>C (p.Leu237Ser) rs886043407

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