ClinVar Miner

List of variants studied for short rib dysplasia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2593G>A (p.Val865Met) rs758674130 0.00006
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs)
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001377.3(DYNC2H1):c.12481C>T (p.Gln4161Ter)
NM_001377.3(DYNC2H1):c.5716A>G (p.Thr1906Ala)
NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)
NM_001377.3(DYNC2H1):c.7507G>T (p.Val2503Phe)
NM_001377.3(DYNC2H1):c.8349T>A (p.Asp2783Glu)
NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer)
NM_001382391.1(CSPP1):c.385-2A>G
NM_014714.4(IFT140):c.2755C>T (p.Arg919Trp)
NM_014714.4(IFT140):c.2990T>C (p.Val997Ala)
NM_014714.4(IFT140):c.648T>G (p.Tyr216Ter)
NM_020800.3(IFT80):c.1406A>G (p.Asp469Gly) rs1057523840
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)
NM_052989.3(IFT122):c.2162T>C (p.Leu721Pro)
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
NM_147127.5(EVC2):c.2239_2243del (p.Ala747fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_153717.3(EVC):c.801+1G>T

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.