ClinVar Miner

List of variants studied for van Maldergem syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (3):

Van Maldergem syndrome 1
Van Maldergem syndrome 1; Hennekam lymphangiectasia-lymphedema syndrome 1; Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser)	rs138340204	0.00335
NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser)	rs869312675	0.00003

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