List of variants in gene RAI1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)	rs147091667	0.00062
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)	rs368106957	0.00016
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg)	rs143029873	0.00004
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)	rs527757515	0.00001
NM_030665.4(RAI1):c.2189C>T (p.Pro730Leu)	rs752227655	0.00001
NM_030665.4(RAI1):c.2329G>C (p.Asp777His)	rs959911033	0.00001
NM_030665.4(RAI1):c.2709G>C (p.Glu903Asp)	rs752676204	0.00001
NM_030665.4(RAI1):c.1477G>A (p.Ala493Thr)
NM_030665.4(RAI1):c.1564G>A (p.Glu522Lys)
NM_030665.4(RAI1):c.1587C>G (p.Phe529Leu)	rs1348529730
NM_030665.4(RAI1):c.1693T>C (p.Ser565Pro)	rs2032160866
NM_030665.4(RAI1):c.1946G>T (p.Cys649Phe)	rs2032172027
NM_030665.4(RAI1):c.2188C>T (p.Pro730Ser)
NM_030665.4(RAI1):c.3106G>A (p.Gly1036Arg)
NM_030665.4(RAI1):c.3352G>A (p.Ala1118Thr)
NM_030665.4(RAI1):c.452T>C (p.Val151Ala)	rs772737234
NM_030665.4(RAI1):c.5272G>C (p.Asp1758His)	rs1598094365
NM_030665.4(RAI1):c.666CTC[4] (p.Ser225dup)	rs778508332
NM_030665.4(RAI1):c.98C>T (p.Pro33Leu)	rs753461570

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.