List of variants in gene combination FBN2, LOC126807501 reported as benign for Congenital contractural arachnodactyly

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=)	rs28763946	0.01862
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	rs28763945	0.00784
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)	rs1801167	0.00102
NM_001999.4(FBN2):c.3217+13G>A	rs572013507	0.00010
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)	rs147633551	0.00009
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)	rs528529593	0.00003
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile)	rs773235785	0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)	rs139118782	0.00001
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3217+12C>A	rs375688726

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