ClinVar Miner

List of variants studied for Greenberg dysplasia

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_002296.4(LBR):c.*1049C>G rs886046048
NM_002296.4(LBR):c.*1128G>A rs536222809
NM_002296.4(LBR):c.*1200T>C rs533835261
NM_002296.4(LBR):c.*1201A>G
NM_002296.4(LBR):c.*1305C>G rs181244136
NM_002296.4(LBR):c.*1361T>C rs14205
NM_002296.4(LBR):c.*1498T>C
NM_002296.4(LBR):c.*1532G>A rs7406
NM_002296.4(LBR):c.*1586G>A
NM_002296.4(LBR):c.*1595A>G
NM_002296.4(LBR):c.*1769A>T
NM_002296.4(LBR):c.*1800C>T
NM_002296.4(LBR):c.*255C>G rs11551874
NM_002296.4(LBR):c.*27C>T
NM_002296.4(LBR):c.*330T>G rs16844841
NM_002296.4(LBR):c.*33C>G
NM_002296.4(LBR):c.*362T>G
NM_002296.4(LBR):c.*624T>A rs886046050
NM_002296.4(LBR):c.*656G>A rs80028106
NM_002296.4(LBR):c.*686A>G rs886046049
NM_002296.4(LBR):c.*769A>T rs75904736
NM_002296.4(LBR):c.-15+14C>T
NM_002296.4(LBR):c.-33C>A rs557283078
NM_002296.4(LBR):c.-39G>C rs553408012
NM_002296.4(LBR):c.-41C>G rs1056605
NM_002296.4(LBR):c.-65G>A
NM_002296.4(LBR):c.-66T>C rs886046054
NM_002296.4(LBR):c.-71G>C rs886046055
NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys)
NM_002296.4(LBR):c.1071G>A (p.Ser357=) rs112582692
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_002296.4(LBR):c.1115G>A (p.Arg372His)
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607
NM_002296.4(LBR):c.1188+4T>C rs200998506
NM_002296.4(LBR):c.1217C>G (p.Ala406Gly)
NM_002296.4(LBR):c.1238G>A (p.Arg413His)
NM_002296.4(LBR):c.1289A>G (p.Tyr430Cys)
NM_002296.4(LBR):c.1315-10A>G
NM_002296.4(LBR):c.1315-8C>T
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338
NM_002296.4(LBR):c.1328C>T (p.Thr443Met) rs531565954
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126
NM_002296.4(LBR):c.1402del (p.Tyr468fs) rs886037655
NM_002296.4(LBR):c.1471A>G (p.Ile491Val) rs886046052
NM_002296.4(LBR):c.1528G>A (p.Ala510Thr) rs78828796
NM_002296.4(LBR):c.1561G>A (p.Ala521Thr)
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser)
NM_002296.4(LBR):c.1590G>A (p.Thr530=) rs766271949
NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer) rs387906416
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) rs587777171
NM_002296.4(LBR):c.1670C>T (p.Ala557Val) rs202123513
NM_002296.4(LBR):c.1748G>A (p.Arg583Gln) rs587777172
NM_002296.4(LBR):c.1793C>T (p.Ala598Val)
NM_002296.4(LBR):c.1814G>A (p.Arg605His)
NM_002296.4(LBR):c.1828A>G (p.Ile610Val) rs886046051
NM_002296.4(LBR):c.206C>T (p.Ser69Phe) rs369299493
NM_002296.4(LBR):c.21C>T (p.Ala7=) rs184378202
NM_002296.4(LBR):c.254G>A (p.Arg85Gln)
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608
NM_002296.4(LBR):c.271C>T (p.Pro91Ser)
NM_002296.4(LBR):c.287G>A (p.Arg96Gln)
NM_002296.4(LBR):c.312C>T (p.Ala104=)
NM_002296.4(LBR):c.32_35del (p.Val11fs) rs863223326
NM_002296.4(LBR):c.353C>T (p.Thr118Ile)
NM_002296.4(LBR):c.357G>A (p.Pro119=)
NM_002296.4(LBR):c.367-7A>T
NM_002296.4(LBR):c.371C>A (p.Pro124Gln)
NM_002296.4(LBR):c.396T>C (p.Tyr132=) rs374289757
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419
NM_002296.4(LBR):c.562G>A (p.Val188Ile)
NM_002296.4(LBR):c.575T>G (p.Leu192Arg)
NM_002296.4(LBR):c.607C>T (p.Arg203Trp) rs775167348
NM_002296.4(LBR):c.655A>G (p.Met219Val)
NM_002296.4(LBR):c.724A>G (p.Asn242Asp) rs886046053
NM_002296.4(LBR):c.730C>T (p.Pro244Ser)
NM_002296.4(LBR):c.743C>T (p.Pro248Leu)
NM_002296.4(LBR):c.746C>A (p.Ala249Asp) rs200781118
NM_002296.4(LBR):c.790C>T (p.Leu264=) rs140355742
NM_002296.4(LBR):c.819C>T (p.Tyr273=)
NM_002296.4(LBR):c.838-16dup rs533588538
NM_002296.4(LBR):c.838-5T>C
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545
NM_002296.4(LBR):c.893-4A>T
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys) rs2230422
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416
NM_002296.4(LBR):c.931A>G (p.Thr311Ala)
NM_002296.4(LBR):c.951A>G (p.Val317=) rs199748938
NM_002296.4(LBR):c.959A>G (p.His320Arg) rs201654506
NM_002296.4(LBR):c.97A>G (p.Thr33Ala) rs200756121
NM_194442.2(LBR):c.-15+598G>A rs886046056
NM_194442.2(LBR):c.-15+600C>T rs12096558
NM_194442.2(LBR):c.-15+605G>A rs879643716
NM_194442.2(LBR):c.-15+641C>T rs186519008

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