ClinVar Miner

List of variants in gene GORAB studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_152281.3(GORAB):c.21A>C (p.Gly7=) rs7531125 0.93522
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_152281.3(GORAB):c.*1064T>A rs6427262 0.31948
NM_152281.3(GORAB):c.*47T>G rs7552922 0.15016
NM_152281.3(GORAB):c.*1065A>T rs12063774 0.05681
NM_152281.3(GORAB):c.*884C>A rs76753490 0.05650
NM_152281.3(GORAB):c.*883G>A rs76509176 0.05649
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_152281.3(GORAB):c.*534T>C rs41272499 0.00754
NM_152281.3(GORAB):c.618C>T (p.Leu206=) rs35872826 0.00535
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.*1217T>C rs77280970 0.00081
NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) rs138502097 0.00036
NM_152281.3(GORAB):c.*1298T>C rs185248405 0.00033
NM_152281.3(GORAB):c.*1039A>G rs777070030 0.00024
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021
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.719G>A (p.Arg240His) rs149924639 0.00009
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.367G>T (p.Glu123Ter) rs119455951 0.00002
NM_152281.3(GORAB):c.388G>A (p.Asp130Asn) rs750567904 0.00002
NM_152281.2(GORAB):c.5G>T (p.Ser2Ile) 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.156G>T (p.Gly52=) rs190850168 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.784C>T (p.Arg262Ter) rs119455952 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
GORAB, 1-BP DEL, 257C
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
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.103C>T (p.Arg35Ter)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) rs1461050152
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)
NM_152281.3(GORAB):c.282C>G (p.Pro94=) rs767686838
NM_152281.3(GORAB):c.287del (p.Gly96fs)
NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)
NM_152281.3(GORAB):c.408G>C (p.Lys136Asn) rs964155812
NM_152281.3(GORAB):c.408_409del (p.Lys137fs) rs1085307068
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.5del (p.Ala2fs) rs1571232872
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) rs1648727549
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro) rs183596463
NM_152281.3(GORAB):c.662+5G>C rs1330106644
NM_152281.3(GORAB):c.668G>C (p.Arg223Pro) rs564838793
NM_152281.3(GORAB):c.859G>T (p.Val287Leu)

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