ClinVar Miner

List of variants in gene B3GAT3 studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_012200.4(B3GAT3):c.258-50A>G rs4963224 0.99405
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) rs147883248 0.00148
NM_012200.4(B3GAT3):c.909+263del rs753764477 0.00129
NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) rs140378202 0.00106
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) rs140755387 0.00102
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) rs75316688 0.00056
NM_012200.4(B3GAT3):c.906T>G (p.Thr302=) rs111242496 0.00048
NM_012200.4(B3GAT3):c.741G>A (p.Arg247=) rs151230659 0.00039
NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val) rs147526003 0.00025
NM_012200.4(B3GAT3):c.772G>A (p.Val258Met) rs200860039 0.00016
NM_012200.4(B3GAT3):c.213C>T (p.Pro71=) rs143334227 0.00015
NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala) rs147681657 0.00014
NM_012200.4(B3GAT3):c.619-6C>T rs374836093 0.00012
NM_012200.4(B3GAT3):c.277C>T (p.Leu93=) rs201779956 0.00009
NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln) rs764609129 0.00008
NM_012200.4(B3GAT3):c.910-3C>T rs201387537 0.00008
NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu) rs150651989 0.00007
NM_012200.4(B3GAT3):c.284G>A (p.Arg95Gln) rs144327434 0.00006
NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val) rs568826131 0.00006
NM_012200.4(B3GAT3):c.436C>T (p.Arg146Trp) rs566214939 0.00006
NM_012200.4(B3GAT3):c.104C>T (p.Pro35Leu) rs762438326 0.00004
NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) rs535206047 0.00004
NM_012200.4(B3GAT3):c.243C>T (p.Thr81=) rs148344427 0.00004
NM_012200.4(B3GAT3):c.257+17A>G rs371334246 0.00004
NM_012200.4(B3GAT3):c.258-9C>T rs748591469 0.00004
NM_012200.4(B3GAT3):c.345G>A (p.Glu115=) rs770392291 0.00004
NM_012200.4(B3GAT3):c.462T>C (p.His154=) rs144675523 0.00004
NM_012200.4(B3GAT3):c.567C>T (p.Val189=) rs539002462 0.00004
NM_012200.4(B3GAT3):c.618+16G>A rs529772553 0.00004
NM_012200.4(B3GAT3):c.666C>T (p.Gly222=) rs752300927 0.00004
NM_012200.4(B3GAT3):c.810A>G (p.Gln270=) rs778465046 0.00004
NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln) rs369154163 0.00004
NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln) rs569989507 0.00004
NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln) rs371091579 0.00003
NM_012200.4(B3GAT3):c.57C>T (p.Gly19=) rs762351057 0.00003
NM_012200.4(B3GAT3):c.632G>A (p.Arg211His) rs562657438 0.00003
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) rs377340567 0.00003
NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val) rs199543524 0.00003
NM_012200.4(B3GAT3):c.909+20C>T rs370750742 0.00003
NM_012200.4(B3GAT3):c.909G>T (p.Arg303=) rs1278193764 0.00003
NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr) rs763747195 0.00003
NM_012200.4(B3GAT3):c.168G>A (p.Ala56=) rs555145931 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_012200.4(B3GAT3):c.290C>T (p.Ser97Phe) rs576173736 0.00002
NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr) rs772496010 0.00002
NM_012200.4(B3GAT3):c.582C>T (p.Asp194=) rs200186699 0.00002
NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) rs758179182 0.00002
NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr) rs1436330448 0.00002
NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys) rs762837360 0.00001
NM_012200.4(B3GAT3):c.17A>G (p.Lys6Arg) rs1428973034 0.00001
NM_012200.4(B3GAT3):c.184C>T (p.Pro62Ser) rs765444124 0.00001
NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu) rs755601885 0.00001
NM_012200.4(B3GAT3):c.253G>A (p.Ala85Thr) rs1438535552 0.00001
NM_012200.4(B3GAT3):c.257+20C>G rs755306273 0.00001
NM_012200.4(B3GAT3):c.259C>T (p.Leu87=) rs755343748 0.00001
NM_012200.4(B3GAT3):c.285A>G (p.Arg95=) rs777849239 0.00001
NM_012200.4(B3GAT3):c.356C>T (p.Pro119Leu) rs746566185 0.00001
NM_012200.4(B3GAT3):c.416C>T (p.Thr139Met) rs1327941900 0.00001
NM_012200.4(B3GAT3):c.467G>A (p.Arg156His) rs1215648192 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012200.4(B3GAT3):c.486C>T (p.Asn162=) rs753696345 0.00001
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) rs766019547 0.00001
NM_012200.4(B3GAT3):c.526G>A (p.Gly176Ser) rs1282350838 0.00001
NM_012200.4(B3GAT3):c.568G>A (p.Val190Ile) rs373463855 0.00001
NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile) rs753781915 0.00001
NM_012200.4(B3GAT3):c.619-11A>G rs1255882397 0.00001
NM_012200.4(B3GAT3):c.619-12G>A rs372473452 0.00001
NM_012200.4(B3GAT3):c.619-1G>A rs895774521 0.00001
NM_012200.4(B3GAT3):c.678C>T (p.Phe226=) rs761473599 0.00001
NM_012200.4(B3GAT3):c.69G>T (p.Ala23=) rs368059446 0.00001
NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg) rs751979169 0.00001
NM_012200.4(B3GAT3):c.771C>T (p.Ala257=) rs776598325 0.00001
NM_012200.4(B3GAT3):c.822C>T (p.Thr274=) rs376057557 0.00001
NM_012200.4(B3GAT3):c.846C>T (p.Ser282=) rs1367274361 0.00001
NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) rs759636773 0.00001
NM_012200.4(B3GAT3):c.910-7G>A rs778227646 0.00001
NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly)
NM_012200.4(B3GAT3):c.106C>A (p.Pro36Thr) rs375817456
NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg)
NM_012200.4(B3GAT3):c.123C>T (p.Ala41=)
NM_012200.4(B3GAT3):c.126G>C (p.Glu42Asp) rs1188079745
NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer)
NM_012200.4(B3GAT3):c.134G>A (p.Arg45Gln) rs139875377
NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu)
NM_012200.4(B3GAT3):c.135del (p.Gln46fs)
NM_012200.4(B3GAT3):c.150del (p.Ile51fs)
NM_012200.4(B3GAT3):c.162G>T (p.Leu54=)
NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly)
NM_012200.4(B3GAT3):c.1A>G (p.Met1Val)
NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala)
NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser) rs200817074
NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala)
NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val)
NM_012200.4(B3GAT3):c.237T>C (p.Val79=)
NM_012200.4(B3GAT3):c.240T>C (p.Val80=)
NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser) rs1590779613
NM_012200.4(B3GAT3):c.24G>A (p.Val8=)
NM_012200.4(B3GAT3):c.258-20G>A rs2134430962
NM_012200.4(B3GAT3):c.279G>A (p.Leu93=)
NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter) rs750685646
NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)
NM_012200.4(B3GAT3):c.300G>A (p.Leu100=)
NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr) rs563591823
NM_012200.4(B3GAT3):c.303C>T (p.Ser101=)
NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp)
NM_012200.4(B3GAT3):c.31G>A (p.Ala11Thr) rs1436324851
NM_012200.4(B3GAT3):c.325C>G (p.Leu109Val) rs1943052698
NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)
NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr)
NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu)
NM_012200.4(B3GAT3):c.357G>A (p.Pro119=)
NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter)
NM_012200.4(B3GAT3):c.371T>A (p.Leu124Gln) rs1253042687
NM_012200.4(B3GAT3):c.372G>T (p.Leu124=) rs2134430470
NM_012200.4(B3GAT3):c.390C>T (p.Leu130=)
NM_012200.4(B3GAT3):c.414C>G (p.Leu138=)
NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr) rs752696250
NM_012200.4(B3GAT3):c.444C>T (p.Gly148=)
NM_012200.4(B3GAT3):c.459T>C (p.Val153=)
NM_012200.4(B3GAT3):c.465C>T (p.Pro155=)
NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys) rs267603076
NM_012200.4(B3GAT3):c.474C>T (p.Val158=)
NM_012200.4(B3GAT3):c.480G>A (p.Gln160=)
NM_012200.4(B3GAT3):c.492C>T (p.Ala164=)
NM_012200.4(B3GAT3):c.496G>T (p.Asp166Tyr) rs2134430036
NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr)
NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg)
NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs) rs1554968726
NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser)
NM_012200.4(B3GAT3):c.548C>T (p.Pro183Leu) rs746221368
NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro)
NM_012200.4(B3GAT3):c.570C>T (p.Val190=)
NM_012200.4(B3GAT3):c.576T>C (p.Phe192=)
NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del) rs1565079578
NM_012200.4(B3GAT3):c.590A>C (p.Asn197Thr) rs1842716430
NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=)
NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp)
NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)
NM_012200.4(B3GAT3):c.60C>T (p.Leu20=)
NM_012200.4(B3GAT3):c.618+11G>A
NM_012200.4(B3GAT3):c.618+8C>T
NM_012200.4(B3GAT3):c.619-10C>A
NM_012200.4(B3GAT3):c.619-10C>T rs369693069
NM_012200.4(B3GAT3):c.619-19C>T
NM_012200.4(B3GAT3):c.619-5G>A
NM_012200.4(B3GAT3):c.619-6dup
NM_012200.4(B3GAT3):c.619-9C>T
NM_012200.4(B3GAT3):c.63C>G (p.Leu21=)
NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del) rs2134429110
NM_012200.4(B3GAT3):c.65A>G (p.Tyr22Cys) rs2134439341
NM_012200.4(B3GAT3):c.681G>A (p.Glu227=)
NM_012200.4(B3GAT3):c.684C>T (p.Gly228=) rs763008165
NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser) rs2134429010
NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu)
NM_012200.4(B3GAT3):c.699C>T (p.Asp233=)
NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu) rs1454428915
NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val)
NM_012200.4(B3GAT3):c.735C>T (p.Pro245=)
NM_012200.4(B3GAT3):c.738C>T (p.Ser246=) rs750905248
NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu)
NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala)
NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val)
NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys)
NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser)
NM_012200.4(B3GAT3):c.819C>T (p.Ser273=)
NM_012200.4(B3GAT3):c.82+10G>T
NM_012200.4(B3GAT3):c.82+11del
NM_012200.4(B3GAT3):c.82+13G>T rs1288315000
NM_012200.4(B3GAT3):c.82+15G>T
NM_012200.4(B3GAT3):c.82+18G>A
NM_012200.4(B3GAT3):c.82+1G>A
NM_012200.4(B3GAT3):c.82+3G>A
NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr)
NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp)
NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser)
NM_012200.4(B3GAT3):c.83-11C>T
NM_012200.4(B3GAT3):c.83-20T>C
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)
NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn)
NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp)
NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln)
NM_012200.4(B3GAT3):c.909+263C>G rs12794886
NM_012200.4(B3GAT3):c.910-10C>T
NM_012200.4(B3GAT3):c.910-13C>T
NM_012200.4(B3GAT3):c.910-16A>T
NM_012200.4(B3GAT3):c.910-6G>A
NM_012200.4(B3GAT3):c.910-9C>T
NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg)
NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter) rs2134426364
NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) rs1565074659
NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly) rs1943128827
NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu) rs2134426342
NM_012200.4(B3GAT3):c.96C>T (p.Asp32=)
NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp)
NM_012200.4(B3GAT3):c.979C>A (p.Arg327=) rs200511074
NM_012200.4(B3GAT3):c.979C>T (p.Arg327Trp) rs200511074
NM_012200.4(B3GAT3):c.981G>A (p.Arg327=)
NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro)
NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter)
NM_012200.4(B3GAT3):c.992del (p.Pro331fs) rs750535749

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