ClinVar Miner

List of variants studied for Acromicric dysplasia by Mendelics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)	rs1555400049
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)	rs1060501041
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)	rs193922207
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)	rs2141235242
NM_000138.5(FBN1):c.7249del (p.Glu2417fs)	rs2141226991
NM_000138.5(FBN1):c.7623C>G (p.Cys2541Trp)	rs2141221899
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)	rs2141211556

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