ClinVar Miner

List of variants in gene B3GAT3 reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) rs147883248 0.00148
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.772G>A (p.Val258Met) rs200860039 0.00016
NM_012200.4(B3GAT3):c.213C>T (p.Pro71=) rs143334227 0.00015
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.43G>C (p.Val15Leu) rs150651989 0.00007
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.57C>T (p.Gly19=) rs762351057 0.00003
NM_012200.4(B3GAT3):c.909+20C>T rs370750742 0.00003
NM_012200.4(B3GAT3):c.168G>A (p.Ala56=) rs555145931 0.00002
NM_012200.4(B3GAT3):c.582C>T (p.Asp194=) rs200186699 0.00002
NM_012200.4(B3GAT3):c.257+20C>G rs755306273 0.00001
NM_012200.4(B3GAT3):c.285A>G (p.Arg95=) rs777849239 0.00001
NM_012200.4(B3GAT3):c.486C>T (p.Asn162=) rs753696345 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.678C>T (p.Phe226=) rs761473599 0.00001
NM_012200.4(B3GAT3):c.69G>T (p.Ala23=) rs368059446 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.123C>T (p.Ala41=)
NM_012200.4(B3GAT3):c.162G>T (p.Leu54=)
NM_012200.4(B3GAT3):c.237T>C (p.Val79=)
NM_012200.4(B3GAT3):c.240T>C (p.Val80=)
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.300G>A (p.Leu100=)
NM_012200.4(B3GAT3):c.303C>T (p.Ser101=)
NM_012200.4(B3GAT3):c.357G>A (p.Pro119=)
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.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.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.570C>T (p.Val190=)
NM_012200.4(B3GAT3):c.576T>C (p.Phe192=)
NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=)
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.681G>A (p.Glu227=)
NM_012200.4(B3GAT3):c.684C>T (p.Gly228=) rs763008165
NM_012200.4(B3GAT3):c.699C>T (p.Asp233=)
NM_012200.4(B3GAT3):c.735C>T (p.Pro245=)
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.83-11C>T
NM_012200.4(B3GAT3):c.83-20T>C
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.96C>T (p.Asp32=)
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=)

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