ClinVar Miner

List of variants in gene OTX2 studied for obsolete anophthalmia-microphthalmia syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_021728.4(OTX2):c.831C>T (p.Asn277=) rs78559885 0.00171
NM_021728.4(OTX2):c.663C>T (p.Pro221=) rs142743327 0.00089
NM_021728.4(OTX2):c.97+20C>T rs369946194 0.00063
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_021728.4(OTX2):c.680T>G (p.Leu227Arg) rs761733794 0.00015
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_021728.4(OTX2):c.757G>A (p.Ala253Thr) rs139800030 0.00011
NM_021728.4(OTX2):c.187G>T (p.Ala63Ser) rs368759331 0.00009
NM_021728.4(OTX2):c.477C>A (p.Ile159=) rs373798705 0.00009
NM_021728.4(OTX2):c.743C>T (p.Thr248Ile) rs199650198 0.00009
NM_021728.4(OTX2):c.840T>C (p.Ala280=) rs201396096 0.00005
NM_021728.4(OTX2):c.85G>A (p.Val29Met) rs777618282 0.00005
NM_021728.4(OTX2):c.376G>C (p.Ala126Pro) rs925178840 0.00004
NM_021728.4(OTX2):c.421C>A (p.Pro141Thr) rs376333965 0.00004
NM_021728.4(OTX2):c.602C>A (p.Thr201Asn) rs755578825 0.00004
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_021728.4(OTX2):c.38A>G (p.Asn13Ser) rs776356711 0.00003
NM_021728.4(OTX2):c.664G>A (p.Gly222Arg) rs374968145 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_021728.4(OTX2):c.203C>G (p.Thr68Ser) rs759256101 0.00002
NM_021728.4(OTX2):c.372T>C (p.Ser124=) rs763911822 0.00002
NM_021728.4(OTX2):c.567G>A (p.Gln189=) rs1257366193 0.00002
NM_021728.4(OTX2):c.758C>T (p.Ala253Val) rs758228717 0.00002
NM_021728.4(OTX2):c.873G>A (p.Ser291=) rs759833842 0.00002
NM_021728.4(OTX2):c.150G>A (p.Arg50=) rs1246931412 0.00001
NM_021728.4(OTX2):c.192G>A (p.Leu64=) rs141664597 0.00001
NM_021728.4(OTX2):c.226C>A (p.Arg76=) rs773157352 0.00001
NM_021728.4(OTX2):c.290G>A (p.Arg97Gln) rs200990681 0.00001
NM_021728.4(OTX2):c.385G>C (p.Val129Leu) rs1294096975 0.00001
NM_021728.4(OTX2):c.411C>T (p.Gly137=) rs772021946 0.00001
NM_021728.4(OTX2):c.423C>A (p.Pro141=) rs372008404 0.00001
NM_021728.4(OTX2):c.446C>T (p.Thr149Ile) rs771047348 0.00001
NM_021728.4(OTX2):c.488C>T (p.Ala163Val) rs1891907901 0.00001
NM_021728.4(OTX2):c.64A>G (p.Met22Val) rs200680654 0.00001
NM_021728.4(OTX2):c.682A>G (p.Ser228Gly) rs529946021 0.00001
NM_021728.4(OTX2):c.744C>A (p.Thr248=) rs1026307269 0.00001
NM_021728.4(OTX2):c.872C>T (p.Ser291Leu) rs753156713 0.00001
NC_000014.8:g.(?_57268453)_(57272174_?)del
NC_000014.8:g.(?_57268453)_(57272174_?)dup
NC_000014.8:g.(?_57270959)_(57274875_?)del
NC_000014.9:g.(?_56801715)_(56802375_?)del
NC_000014.9:g.(?_56801715)_(56804383_?)del
NM_021728.4(OTX2):c.125C>A (p.Thr42Asn)
NM_021728.4(OTX2):c.126C>A (p.Thr42=) rs750923926
NM_021728.4(OTX2):c.127C>A (p.Pro43Thr)
NM_021728.4(OTX2):c.127C>G (p.Pro43Ala) rs374042850
NM_021728.4(OTX2):c.130del (p.Arg44fs) rs758119168
NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)
NM_021728.4(OTX2):c.150del (p.Thr51fs)
NM_021728.4(OTX2):c.155C>G (p.Thr52Arg)
NM_021728.4(OTX2):c.167C>A (p.Ala56Glu)
NM_021728.4(OTX2):c.168G>T (p.Ala56=) rs1354433789
NM_021728.4(OTX2):c.171G>C (p.Gln57His)
NM_021728.4(OTX2):c.190C>A (p.Leu64Met)
NM_021728.4(OTX2):c.190_191del (p.Leu64fs)
NM_021728.4(OTX2):c.192G>C (p.Leu64=)
NM_021728.4(OTX2):c.207G>A (p.Arg69=)
NM_021728.4(OTX2):c.211C>T (p.Pro71Ser)
NM_021728.4(OTX2):c.217A>T (p.Ile73Phe)
NM_021728.4(OTX2):c.225G>A (p.Met75Ile)
NM_021728.4(OTX2):c.235G>A (p.Val79Met) rs1434432414
NM_021728.4(OTX2):c.257C>T (p.Pro86Leu)
NM_021728.4(OTX2):c.270G>A (p.Val90=)
NM_021728.4(OTX2):c.273+10A>T
NM_021728.4(OTX2):c.274-4C>T rs778847365
NM_021728.4(OTX2):c.283A>G (p.Lys95Glu)
NM_021728.4(OTX2):c.286A>T (p.Asn96Tyr) rs2139529387
NM_021728.4(OTX2):c.297T>C (p.Ala99=) rs2139529344
NM_021728.4(OTX2):c.305G>A (p.Arg102His)
NM_021728.4(OTX2):c.316C>T (p.Gln106Ter)
NM_021728.4(OTX2):c.363del (p.Lys122fs)
NM_021728.4(OTX2):c.377C>T (p.Ala126Val)
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln) rs199799627
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) rs199799627
NM_021728.4(OTX2):c.385G>A (p.Val129Met) rs1294096975
NM_021728.4(OTX2):c.388A>T (p.Ser130Cys)
NM_021728.4(OTX2):c.392C>T (p.Ser131Leu)
NM_021728.4(OTX2):c.404C>G (p.Thr135Arg) rs1891915573
NM_021728.4(OTX2):c.408T>A (p.Ser136Arg)
NM_021728.4(OTX2):c.425C>A (p.Pro142His) rs199761861
NM_021728.4(OTX2):c.425C>T (p.Pro142Leu) rs199761861
NM_021728.4(OTX2):c.426C>A (p.Pro142=) rs553884027
NM_021728.4(OTX2):c.426C>T (p.Pro142=) rs553884027
NM_021728.4(OTX2):c.43C>T (p.Leu15=)
NM_021728.4(OTX2):c.440T>C (p.Val147Ala) rs2139528876
NM_021728.4(OTX2):c.441C>G (p.Val147=)
NM_021728.4(OTX2):c.443C>T (p.Pro148Leu) rs201721391
NM_021728.4(OTX2):c.444G>A (p.Pro148=) rs147896150
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_021728.4(OTX2):c.444dup (p.Thr149fs) rs2139528859
NM_021728.4(OTX2):c.451G>A (p.Ala151Thr) rs770486100
NM_021728.4(OTX2):c.451G>T (p.Ala151Ser) rs770486100
NM_021728.4(OTX2):c.453C>T (p.Ala151=)
NM_021728.4(OTX2):c.458G>A (p.Ser153Asn)
NM_021728.4(OTX2):c.461G>C (p.Ser154Thr)
NM_021728.4(OTX2):c.479G>A (p.Trp160Ter)
NM_021728.4(OTX2):c.483C>T (p.Ser161=) rs538192166
NM_021728.4(OTX2):c.516del (p.Leu172fs)
NM_021728.4(OTX2):c.543G>A (p.Arg181=) rs1184804231
NM_021728.4(OTX2):c.546_553del (p.Tyr183fs) rs2139528560
NM_021728.4(OTX2):c.561T>C (p.Tyr187=)
NM_021728.4(OTX2):c.565C>T (p.Gln189Ter)
NM_021728.4(OTX2):c.579T>C (p.Tyr193=) rs2139528485
NM_021728.4(OTX2):c.580A>G (p.Ser194Gly) rs765382721
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter) rs397514463
NM_021728.4(OTX2):c.596del (p.Gly199fs) rs1891902224
NM_021728.4(OTX2):c.597C>G (p.Gly199=) rs775913832
NM_021728.4(OTX2):c.599C>T (p.Ser200Leu)
NM_021728.4(OTX2):c.601A>T (p.Thr201Ser) rs748910557
NM_021728.4(OTX2):c.602C>T (p.Thr201Ile)
NM_021728.4(OTX2):c.617G>T (p.Gly206Val)
NM_021728.4(OTX2):c.632C>A (p.Ser211Ter) rs1891900408
NM_021728.4(OTX2):c.640A>G (p.Thr214Ala)
NM_021728.4(OTX2):c.648G>A (p.Met216Ile)
NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)
NM_021728.4(OTX2):c.658_659delinsG (p.Leu220fs) rs1566622642
NM_021728.4(OTX2):c.65T>C (p.Met22Thr) rs2139537248
NM_021728.4(OTX2):c.661C>T (p.Pro221Ser)
NM_021728.4(OTX2):c.666A>G (p.Gly222=)
NM_021728.4(OTX2):c.701C>T (p.Ala234Val)
NM_021728.4(OTX2):c.707C>T (p.Thr236Ile)
NM_021728.4(OTX2):c.721C>T (p.Gln241Ter)
NM_021728.4(OTX2):c.728C>T (p.Pro243Leu)
NM_021728.4(OTX2):c.730G>T (p.Ala244Ser) rs1594952158
NM_021728.4(OTX2):c.745C>T (p.Gln249Ter) rs1891892511
NM_021728.4(OTX2):c.749G>A (p.Gly250Glu) rs746941491
NM_021728.4(OTX2):c.74T>C (p.Leu25Pro) rs2139537214
NM_021728.4(OTX2):c.758C>G (p.Ala253Gly)
NM_021728.4(OTX2):c.75G>A (p.Leu25=) rs2139537208
NM_021728.4(OTX2):c.774dup (p.Asn259Ter) rs1891889944
NM_021728.4(OTX2):c.778T>G (p.Ser260Ala) rs2139527790
NM_021728.4(OTX2):c.782C>T (p.Thr261Ile)
NM_021728.4(OTX2):c.804G>A (p.Lys268=) rs1891888606
NM_021728.4(OTX2):c.806A>G (p.Asp269Gly) rs2139527692
NM_021728.4(OTX2):c.81C>T (p.Pro27=) rs1892047371
NM_021728.4(OTX2):c.821G>A (p.Trp274Ter) rs1891888072
NM_021728.4(OTX2):c.837T>C (p.Asn279=) rs2139527617
NM_021728.4(OTX2):c.843C>A (p.Asp281Glu)
NM_021728.4(OTX2):c.867A>T (p.Thr289=) rs2139527552
NM_021728.4(OTX2):c.871T>A (p.Ser291Thr) rs2139527543
NM_021728.4(OTX2):c.873G>C (p.Ser291=) rs759833842
NM_021728.4(OTX2):c.90C>A (p.Gly30=)
NM_021728.4(OTX2):c.94C>A (p.Pro32Thr)
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223

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