List of variants in gene FBN1 reported as uncertain significance for Progeroid and marfanoid aspect-lipodystrophy syndrome

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)	rs770860280	0.00005
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)	rs778181932	0.00003
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)	rs779490973	0.00002
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)	rs780993677	0.00002
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)	rs762659907	0.00001
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)	rs794728191
NM_000138.5(FBN1):c.3654C>G (p.Ser1218Arg)	rs760712674
NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)	rs2505518951
NM_000138.5(FBN1):c.4712G>A (p.Gly1571Asp)	rs2141272302
NM_000138.5(FBN1):c.5789-13G>A	rs777593835
NM_000138.5(FBN1):c.6053T>C (p.Val2018Ala)	rs2043117596
NM_000138.5(FBN1):c.7007A>T (p.Glu2336Val)	rs2505412871
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)	rs1555393658

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