ClinVar Miner

List of variants in gene PITX2 studied for Axenfeld-Rieger syndrome type 1

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_153427.2(PITX2):c.-485C>G rs2739200 0.64006
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01088
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00212
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00157
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_000325.6(PITX2):c.*340A>G rs551209662 0.00021
NM_153427.3(PITX2):c.-40G>A rs942688607 0.00014
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00011
NM_153427.2(PITX2):c.-1385+12T>C rs140614517 0.00009
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00008
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_153427.2(PITX2):c.-1209C>T rs563409386 0.00005
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00004
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NC_000004.12:g.(?_110618049)_(110622472_?)del
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.208A>T (p.Lys70Ter) rs2110435882
NM_000325.6(PITX2):c.220C>T (p.Gln74Ter) rs2529773540
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln) rs2529773041
NM_000325.6(PITX2):c.293dup (p.His98fs) rs2529773117
NM_000325.6(PITX2):c.296T>C (p.Phe99Ser) rs2529773099
NM_000325.6(PITX2):c.302_303del (p.Ser101fs) rs2529773071
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) rs104893857
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) rs1057519483
NM_000325.6(PITX2):c.344G>A (p.Arg115His) rs104893862
NM_000325.6(PITX2):c.347_378del (p.Tyr116fs) rs2110435639
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) rs104893858
NM_000325.6(PITX2):c.384G>A (p.Trp128Ter) rs2529772680
NM_000325.6(PITX2):c.391C>G (p.Leu131Val) rs2529772641
NM_000325.6(PITX2):c.394dup (p.Thr132fs)
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) rs121909249
NM_000325.6(PITX2):c.406G>T (p.Val136Phe) rs121909249
NM_000325.6(PITX2):c.411+1G>A rs1728998905
NM_000325.6(PITX2):c.411+5G>C rs1560590094
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-1G>A rs2476658214
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.417G>T (p.Trp139Cys) rs2476658161
NM_000325.6(PITX2):c.418T>C (p.Phe140Leu) rs2476658147
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) rs387906810
NM_000325.6(PITX2):c.428G>C (p.Arg143Pro) rs2476658099
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.503_506del (p.Asn168fs) rs2476657335
NM_000325.6(PITX2):c.515del (p.Gln172fs) rs2476657179
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.525del (p.Asp175fs) rs2476657038
NM_000325.6(PITX2):c.557G>A (p.Trp186Ter) rs2476656626
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
NM_000325.6(PITX2):c.663del (p.Asn222fs) rs2476651963
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) rs1057519488
NM_000325.6(PITX2):c.790del (p.Val264fs) rs2476650732
NM_000325.6(PITX2):c.791_792dup (p.Pro265fs) rs2476650692
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) rs1057519489
NM_000325.6(PITX2):c.867_889del (p.Ser290fs) rs2476649405
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030

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