ClinVar Miner

List of variants in gene LBR reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.*1200T>C rs533835261 0.00108
NM_002296.4(LBR):c.1289A>G (p.Tyr430Cys) rs138769892 0.00086
NM_002296.4(LBR):c.312C>T (p.Ala104=) rs146953852 0.00041
NM_002296.4(LBR):c.*1586G>A rs181401210 0.00032
NM_002296.4(LBR):c.*1128G>A rs536222809 0.00023
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) rs2230422 0.00022
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_002296.4(LBR):c.97A>G (p.Thr33Ala) rs200756121 0.00021
NM_002296.4(LBR):c.1188+4T>C rs200998506 0.00020
NM_002296.4(LBR):c.1315-8C>T rs369094974 0.00015
NM_002296.4(LBR):c.893-4A>T rs1216210580 0.00015
NM_002296.4(LBR):c.284G>A (p.Arg95His) rs371428900 0.00014
NM_002296.4(LBR):c.743C>T (p.Pro248Leu) rs140008883 0.00014
NM_002296.4(LBR):c.790C>T (p.Leu264=) rs140355742 0.00014
NM_002296.4(LBR):c.819C>T (p.Tyr273=) rs746272856 0.00014
NM_002296.4(LBR):c.271C>T (p.Pro91Ser) rs201003932 0.00012
NM_002296.3(LBR):c.-162G>A rs879643716 0.00011
NM_002296.4(LBR):c.*1595A>G rs753369741 0.00011
NM_002296.4(LBR):c.*1800C>T rs867272643 0.00010
NM_002296.4(LBR):c.206C>T (p.Ser69Phe) rs369299493 0.00010
NM_002296.4(LBR):c.396T>C (p.Tyr132=) rs374289757 0.00009
NM_002296.4(LBR):c.951A>G (p.Val317=) rs199748938 0.00009
NM_002296.4(LBR):c.357G>A (p.Pro119=) rs150177807 0.00008
NM_002296.4(LBR):c.562G>A (p.Val188Ile) rs199796274 0.00008
NM_002296.4(LBR):c.991C>T (p.Leu331Phe) rs201609720 0.00008
NM_002296.4(LBR):c.746C>A (p.Ala249Asp) rs200781118 0.00007
NM_002296.4(LBR):c.1115G>A (p.Arg372His) rs747250396 0.00006
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002296.4(LBR):c.21C>T (p.Ala7=) rs184378202 0.00005
NM_002296.4(LBR):c.*1769A>T rs756081622 0.00004
NM_002296.4(LBR):c.607C>T (p.Arg203Trp) rs775167348 0.00004
NM_002296.4(LBR):c.931A>G (p.Thr311Ala) rs2275601 0.00004
NM_002296.4(LBR):c.1670C>T (p.Ala557Val) rs202123513 0.00003
NM_002296.4(LBR):c.*1049C>G rs886046048 0.00002
NM_002296.4(LBR):c.*1305C>G rs181244136 0.00002
NM_002296.4(LBR):c.1590G>A (p.Thr530=) rs766271949 0.00002
NM_002296.4(LBR):c.1814G>A (p.Arg605His) rs377008758 0.00002
NM_002296.3(LBR):c.-169G>A rs886046056 0.00001
NM_002296.4(LBR):c.*27C>T rs2096084738 0.00001
NM_002296.4(LBR):c.*33C>G rs749772181 0.00001
NM_002296.4(LBR):c.-71G>C rs886046055 0.00001
NM_002296.4(LBR):c.1238G>A (p.Arg413His) rs534522882 0.00001
NM_002296.4(LBR):c.1328C>T (p.Thr443Met) rs531565954 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.1471A>G (p.Ile491Val) rs886046052 0.00001
NM_002296.4(LBR):c.353C>T (p.Thr118Ile) rs138380180 0.00001
NM_002296.4(LBR):c.575T>G (p.Leu192Arg) rs149760565 0.00001
NM_002296.4(LBR):c.730C>T (p.Pro244Ser) rs752316294 0.00001
NM_002296.4(LBR):c.838-5T>C rs777146629 0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr) rs201093644 0.00001
NM_002296.4(LBR):c.*1201A>G rs2096082872
NM_002296.4(LBR):c.*1498T>C rs2096082481
NM_002296.4(LBR):c.*362T>G rs1575216666
NM_002296.4(LBR):c.*624T>A rs886046050
NM_002296.4(LBR):c.*686A>G rs886046049
NM_002296.4(LBR):c.-15+14C>T rs941323589
NM_002296.4(LBR):c.-39G>C rs553408012
NM_002296.4(LBR):c.-41C>G rs1056605
NM_002296.4(LBR):c.-65G>A rs1385420201
NM_002296.4(LBR):c.-66T>C rs886046054
NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys) rs2096107960
NM_002296.4(LBR):c.1217C>G (p.Ala406Gly) rs2096102304
NM_002296.4(LBR):c.1315-10A>G rs372673408
NM_002296.4(LBR):c.1561G>A (p.Ala521Thr) rs372250618
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser) rs372250618
NM_002296.4(LBR):c.1793C>T (p.Ala598Val) rs751127239
NM_002296.4(LBR):c.1828A>G (p.Ile610Val) rs886046051
NM_002296.4(LBR):c.254G>A (p.Arg85Gln) rs758063579
NM_002296.4(LBR):c.287G>A (p.Arg96Gln) rs769191817
NM_002296.4(LBR):c.371C>A (p.Pro124Gln) rs201699817
NM_002296.4(LBR):c.655A>G (p.Met219Val) rs760606703
NM_002296.4(LBR):c.724A>G (p.Asn242Asp) rs886046053
NM_002296.4(LBR):c.838-9dup rs533588538

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