ClinVar Miner

List of variants studied for Hennekam lymphangiectasia-lymphedema syndrome 2 by 3billion

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met)	rs781736766	0.00004
NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met)	rs367877267	0.00003
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val)	rs368138514	0.00001
NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr)	rs762595829	0.00001

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