List of variants in gene FBN2 reported as uncertain significance by Blueprint Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)	rs374507398	0.00006
NM_001999.4(FBN2):c.1849+8A>G	rs747219934	0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)	rs780589159	0.00002
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)	rs761066631	0.00001
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)	rs730880109
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)	rs869025430
NM_001999.4(FBN2):c.3295C>T (p.Arg1099Cys)	rs755510043
NM_001999.4(FBN2):c.3811G>T (p.Gly1271Cys)	rs745509023
NM_001999.4(FBN2):c.4723C>T (p.Arg1575Cys)	rs1581208614
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	rs147157552
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)	rs869025429
NM_001999.4(FBN2):c.8376C>T (p.Ile2792=)	rs142747169

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