List of variants in gene FBN1 reported as pathogenic for Acromicric dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)	rs1555400049
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)	rs193922207
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.5177G>A (p.Gly1726Asp)	rs1064797059
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
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)	rs2141235242
NM_000138.5(FBN1):c.7249del (p.Glu2417fs)	rs2141226991
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)	rs2141211556

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