ClinVar Miner

List of variants reported as uncertain significance for Greenberg dysplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
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.1127C>G (p.Pro376Arg)
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

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.