ClinVar Miner

List of variants in gene GLI3 reported as likely benign for Greig cephalopolysyndactyly syndrome

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.*1042dup rs200076691 0.01529
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000168.6(GLI3):c.*2347C>A rs138209843 0.00015
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.480C>T (p.Ser160=) rs148660482 0.00005
NM_000168.6(GLI3):c.*2071C>T rs539931592 0.00004
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val) rs376477553 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.963C>T (p.Leu321=) rs34965132 0.00004
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4342G>A (p.Val1448Met) rs778526954 0.00001
NM_000168.6(GLI3):c.961C>T (p.Leu321Phe) rs769956877 0.00001
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2962G>C (p.Gly988Arg)
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.455C>T (p.Pro152Leu)
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000168.6(GLI3):c.864G>A (p.Pro288=) rs139026838

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