List of variants reported as uncertain significance for Marfan and Marfan-related disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)	rs201761868	0.00015
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)	rs139179843	0.00013
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)	rs138088528	0.00008
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)	rs1206533102	0.00003
NM_003036.4(SKI):c.625C>A (p.Leu209Met)	rs771298442	0.00002
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)	rs373352179	0.00001
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)	rs763173031
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)	rs1269741981
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)	rs555623960
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr)	rs779554274
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)	rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)	rs1060500766
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)	rs1962536528
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)	rs886039137

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.