ClinVar Miner

List of variants studied for hennekam lymphangiectasia-lymphedema syndrome 3 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014243.3(ADAMTS3):c.2179+21G>A rs10024487 0.98931
NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) rs788908 0.66379
NM_014243.3(ADAMTS3):c.69+31del rs5859330

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