ClinVar Miner

List of variants reported as uncertain significance for Hennekam lymphangiectasia-lymphedema syndrome 2 by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (3):

Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 1; Hennekam lymphangiectasia-lymphedema syndrome 1; Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001291303.3(FAT4):c.1012G>A (p.Glu338Lys)	rs1452017220	0.00001
NM_001291303.3(FAT4):c.3470A>C (p.Asn1157Thr)	rs764042588	0.00001

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