ClinVar Miner

List of variants studied for Acromicric dysplasia by OMIM

Included ClinVar conditions (5):

Acromicric dysplasia
Acromicric dysplasia; Geleophysic dysplasia 2
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)	rs387906622
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)	rs387906626
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr)	rs387906624
NM_000138.5(FBN1):c.5202_5204dup (p.Gln1735dup)	rs587776863
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg)	rs1131692052

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