ClinVar Miner

List of variants reported as uncertain significance for geroderma osteodysplastica

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152281.3(GORAB):c.*1127T>G rs542501839 0.00159
NM_152281.3(GORAB):c.*1063T>A rs577629045 0.00121
NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) rs138502097 0.00036
NM_152281.3(GORAB):c.*1039A>G rs777070030 0.00024
NM_152281.3(GORAB):c.941C>T (p.Ala314Val) rs187680628 0.00021
NM_152281.3(GORAB):c.920T>G (p.Leu307Ter) rs145659887 0.00016
NM_152281.3(GORAB):c.*102G>A rs555373548 0.00015
NM_152281.3(GORAB):c.83G>A (p.Arg28His) rs144383104 0.00014
NM_152281.3(GORAB):c.626G>A (p.Arg209Gln) rs200802067 0.00012
NM_152281.3(GORAB):c.-53C>A rs150688009 0.00011
NM_152281.3(GORAB):c.-21G>A rs149401558 0.00008
NM_152281.3(GORAB):c.188A>G (p.Glu63Gly) rs200333798 0.00007
NM_152281.3(GORAB):c.522-9A>T rs185701616 0.00007
NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe) rs149089833 0.00006
NM_152281.3(GORAB):c.952G>A (p.Val318Met) rs199673882 0.00006
NM_152281.3(GORAB):c.*653T>C rs886045556 0.00005
NM_152281.3(GORAB):c.*980A>T rs544243091 0.00005
NM_152281.3(GORAB):c.-48dup rs759432675 0.00005
NM_152281.3(GORAB):c.-57T>C rs188031069 0.00005
NM_152281.3(GORAB):c.461G>A (p.Arg154Gln) rs749838967 0.00005
NM_152281.3(GORAB):c.223G>A (p.Val75Ile) rs751708902 0.00004
NM_152281.3(GORAB):c.559C>T (p.Arg187Trp) rs763362522 0.00004
NM_152281.3(GORAB):c.868G>A (p.Glu290Lys) rs541180988 0.00004
NM_152281.3(GORAB):c.*944A>G rs371932538 0.00003
NM_152281.3(GORAB):c.-28C>G rs553663341 0.00003
NM_152281.3(GORAB):c.24C>G (p.Phe8Leu) rs151006839 0.00003
NM_152281.3(GORAB):c.782T>A (p.Leu261His) rs773952908 0.00003
NM_152281.3(GORAB):c.*1160G>A rs550890680 0.00002
NM_152281.3(GORAB):c.*598A>G rs886045555 0.00002
NM_152281.3(GORAB):c.*803T>C rs753455699 0.00002
NM_152281.3(GORAB):c.*818A>G rs886045558 0.00002
NM_152281.3(GORAB):c.276C>T (p.Thr92=) rs370271267 0.00002
NM_152281.3(GORAB):c.388G>A (p.Asp130Asn) rs750567904 0.00002
NC_000001.11:g.170532153G>T rs148313748 0.00001
NM_152281.3(GORAB):c.*222G>T rs886045553 0.00001
NM_152281.3(GORAB):c.*998A>G rs1364927513 0.00001
NM_152281.3(GORAB):c.113T>G (p.Leu38Arg) rs781535204 0.00001
NM_152281.3(GORAB):c.274A>G (p.Thr92Ala) rs759352018 0.00001
NM_152281.3(GORAB):c.61+13G>T rs202005173 0.00001
NM_152281.3(GORAB):c.648C>G (p.Asp216Glu) rs780332229 0.00001
NM_152281.3(GORAB):c.649T>C (p.Tyr217His) rs749490786 0.00001
NM_152281.3(GORAB):c.658G>A (p.Ala220Thr) rs183596463 0.00001
NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) rs145193965 0.00001
NM_152281.3(GORAB):c.805G>A (p.Glu269Lys) rs765224001 0.00001
NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) rs761243601 0.00001
NM_152281.2(GORAB):c.3G>A (p.Met1Ile) rs769937320
NM_152281.3(GORAB):c.*1305T>C rs1330502353
NM_152281.3(GORAB):c.*349G>A rs886045554
NM_152281.3(GORAB):c.*404A>G rs1308965013
NM_152281.3(GORAB):c.*612A>G rs1650226571
NM_152281.3(GORAB):c.*771A>T rs886045557
NM_152281.3(GORAB):c.-24T>C
NM_152281.3(GORAB):c.1003del (p.Ser335fs)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)
NM_152281.3(GORAB):c.282C>G (p.Pro94=) rs767686838
NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)
NM_152281.3(GORAB):c.408G>C (p.Lys136Asn) rs964155812
NM_152281.3(GORAB):c.560G>A (p.Arg187Gln) rs190557815
NM_152281.3(GORAB):c.596T>G (p.Val199Gly) rs764819857
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) rs1648727549
NM_152281.3(GORAB):c.668G>C (p.Arg223Pro) rs564838793
NM_152281.3(GORAB):c.859G>T (p.Val287Leu)

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.