ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly 9

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.*1332T>C rs150397467 0.00036
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu) rs201051196 0.00014
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.*1660T>A rs931192232 0.00011
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) rs201945889 0.00009
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024 0.00009
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu) rs759061834 0.00008
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153 0.00006
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met) rs370333257 0.00006
NM_001374353.1(GLI2):c.*411C>T rs1473731779 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile) rs761857488 0.00005
NM_001374353.1(GLI2):c.*1819T>C rs754885960 0.00004
NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn) rs766171973 0.00004
NM_001374353.1(GLI2):c.1317+6C>G rs200971419 0.00004
NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp) rs1397888063 0.00004
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp) rs763893593 0.00004
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=) rs769533860 0.00003
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583 0.00003
NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val) rs1159158222 0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser) rs767780220 0.00002
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) rs376388820 0.00002
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078 0.00002
NM_001374353.1(GLI2):c.*1735T>C rs376387656 0.00001
NM_001374353.1(GLI2):c.*1888T>G rs747928542 0.00001
NM_001374353.1(GLI2):c.*1947G>A rs938514119 0.00001
NM_001374353.1(GLI2):c.*712G>C rs1471633224 0.00001
NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg) rs780172791 0.00001
NM_001374353.1(GLI2):c.1633-7T>A rs532360271 0.00001
NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg) rs777362312 0.00001
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015 0.00001
NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys) rs1181629972 0.00001
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595 0.00001
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813 0.00001
NM_001374353.1(GLI2):c.2831C>T (p.Ala944Val) rs1357813577 0.00001
NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys) rs574656730 0.00001
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) rs377503122 0.00001
NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu) rs1215590067 0.00001
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly) rs754008467 0.00001
NM_001374353.1(GLI2):c.686G>A (p.Arg229His) rs755043644 0.00001
NM_001374353.1(GLI2):c.*1628G>T rs886054827
NM_001374353.1(GLI2):c.*1753C>T rs1683325270
NM_001374353.1(GLI2):c.*285G>A rs536145925
NM_001374353.1(GLI2):c.*378A>G rs886054820
NM_001374353.1(GLI2):c.*795T>C rs1015813455
NM_001374353.1(GLI2):c.1183-12C>T
NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu) rs1684453085
NM_001374353.1(GLI2):c.149-14C>G rs1679731984
NM_001374353.1(GLI2):c.1917C>T (p.Ser639=) rs377642084
NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly) rs1683106609
NM_001374353.1(GLI2):c.2743C>T (p.Pro915Ser)
NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu) rs1477746607
NM_001374353.1(GLI2):c.2955C>G (p.Ala985=) rs886054814
NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=) rs886054815
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3452A>G (p.Gln1151Arg)
NM_001374353.1(GLI2):c.3596T>A (p.Ile1199Asn) rs886054817
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His) rs1683228767
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818

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