ClinVar Miner

List of variants studied for primary lymphedema by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) rs2135923459
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927

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