ClinVar Miner

List of variants in gene RAI1 reported as pathogenic for Smith-Magenis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) rs527236033
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) rs2032234525
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) rs1598091391
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
NM_030665.4(RAI1):c.4525del (p.Gln1509fs) rs2143003068
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) rs1555566042
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) rs750728463
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841

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.