ClinVar Miner

List of variants in gene RTTN reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.6189G>T (p.Leu2063Phe) rs77798966 0.00067
NM_173630.4(RTTN):c.1676A>C (p.Asp559Ala) rs201443817 0.00049
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala) rs8083708 0.00041
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00006
NM_173630.4(RTTN):c.1351T>C (p.Cys451Arg) rs371250250 0.00003
NM_173630.4(RTTN):c.3337T>C (p.Cys1113Arg) rs587780442 0.00001
NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn) rs886042189 0.00001
NM_173630.4(RTTN):c.280C>T (p.Arg94Trp) rs1490930098
NM_173630.4(RTTN):c.3863C>T (p.Pro1288Leu) rs554362605
NM_173630.4(RTTN):c.4884T>C (p.Ala1628=) rs886042166
NM_173630.4(RTTN):c.6409A>T (p.Ile2137Phe) rs794727682

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.