ClinVar Miner

List of variants in gene PAX6 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.10+300T>C rs2440246 1.00000
NM_001368894.2(PAX6):c.1075-174G>A rs2071754 0.68628
NM_001368894.2(PAX6):c.725-234A>T rs2239789 0.44333
NM_001368894.2(PAX6):c.1074+107C>T rs3026384 0.22891
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001368894.2(PAX6):c.-128-204G>A rs3026361 0.05132
NM_001368894.2(PAX6):c.11-195G>A rs3026371 0.05128
NM_001368894.2(PAX6):c.11-41T>C rs73477673 0.03878
NM_001368894.2(PAX6):c.141+231C>T rs3026372 0.03824
NM_001368894.2(PAX6):c.958+33T>A rs73477665 0.02969
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.142-148A>T rs11031479 0.02537
NM_001368894.2(PAX6):c.399+255A>G rs41275154 0.02233
NM_001368894.2(PAX6):c.-52+123T>C rs56281044 0.01288
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.-129+229G>C rs577333042 0.01018
NM_001368894.2(PAX6):c.142-149T>A rs563032643 0.00786
NM_001368894.2(PAX6):c.399+38G>A rs192353192 0.00453
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001368894.2(PAX6):c.-118T>C rs992201562 0.00016
NM_001368894.2(PAX6):c.465C>G (p.Gly155=) rs139803630 0.00009
NM_001368894.2(PAX6):c.11-12C>G rs766046559 0.00008
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001368894.2(PAX6):c.537G>C (p.Gly179=) rs374226064 0.00003
NM_001368894.2(PAX6):c.807+6G>A rs375134684 0.00003
NM_001368894.2(PAX6):c.1078C>G (p.Pro360Ala) rs780973082 0.00001
NM_001368894.2(PAX6):c.141+1G>A rs1554985714 0.00001
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg) rs374396492 0.00001
NM_000280.4(PAX6):c.-125dup
NM_000280.6(PAX6):c.143T>C (p.Val48Ala) rs2135101631
NM_001368894.2(PAX6):c.-117dup rs1554986858
NM_001368894.2(PAX6):c.-129+1G>C rs1565277245
NM_001368894.2(PAX6):c.10+275C>G rs3026362
NM_001368894.2(PAX6):c.10+305C>T rs12278087
NM_001368894.2(PAX6):c.1074+3_1074+6del rs2134572801
NM_001368894.2(PAX6):c.1075-2A>G rs794726661
NM_001368894.2(PAX6):c.1081del (p.Val361fs) rs1131691426
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs) rs1554982615
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.109del (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.109dup (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.11-275dup rs5790867
NM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs) rs1592563502
NM_001368894.2(PAX6):c.1166dup (p.His390fs) rs756801119
NM_001368894.2(PAX6):c.117G>C (p.Pro39=) rs919486001
NM_001368894.2(PAX6):c.1225+1G>T rs1554982537
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
NM_001368894.2(PAX6):c.1225+43T>G rs3026393
NM_001368894.2(PAX6):c.141+2T>A
NM_001368894.2(PAX6):c.141+2T>G rs1057517782
NM_001368894.2(PAX6):c.141+318C>T rs3026373
NM_001368894.2(PAX6):c.142-142dup rs202204811
NM_001368894.2(PAX6):c.142-3T>C
NM_001368894.2(PAX6):c.142-52del rs145866071
NM_001368894.2(PAX6):c.161T>G (p.Val54Gly) rs121907921
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu)
NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr) rs1554985430
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
NM_001368894.2(PAX6):c.201_204del (p.Ser68fs) rs1131691570
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.219G>T (p.Arg73Ser)
NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter) rs775355156
NM_001368894.2(PAX6):c.297C>T (p.Ser99=) rs1064793223
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)
NM_001368894.2(PAX6):c.321del (p.Glu107fs) rs1554985335
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) rs121907914
NM_001368894.2(PAX6):c.373_377del (p.Val125fs) rs1592542615
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399+2dup rs1554985285
NM_001368894.2(PAX6):c.399+4A>G rs1554985282
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) rs1554985100
NM_001368894.2(PAX6):c.413del (p.Asn138fs) rs886041221
NM_001368894.2(PAX6):c.424C>A (p.Arg142Ser) rs121907918
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) rs1953478890
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) rs1057520755
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter) rs1592530126
NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter) rs2135040318
NM_001368894.2(PAX6):c.54del (p.Arg19fs) rs2135153182
NM_001368894.2(PAX6):c.55C>T (p.Arg19Trp) rs1263617876
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter) rs1554983586
NM_001368894.2(PAX6):c.593del (p.Gly198fs) rs886041679
NM_001368894.2(PAX6):c.609dup (p.Ile204fs) rs773606401
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_001368894.2(PAX6):c.724+152TG[17] rs10525266
NM_001368894.2(PAX6):c.724+152TG[18] rs10525266
NM_001368894.2(PAX6):c.724+152TG[19] rs10525266
NM_001368894.2(PAX6):c.724+152TG[20] rs10525266
NM_001368894.2(PAX6):c.724+152TG[21] rs10525266
NM_001368894.2(PAX6):c.724+152TG[27] rs10525266
NM_001368894.2(PAX6):c.734_735del (p.Arg245fs) rs2134613305
NM_001368894.2(PAX6):c.753_754del (p.Phe252fs) rs1592421398
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln) rs2134611494
NM_001368894.2(PAX6):c.808-1G>T rs1592416538
NM_001368894.2(PAX6):c.808-2A>C rs1554983251
NM_001368894.2(PAX6):c.808G>C (p.Val270Leu) rs779126789
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter) rs1554983238
NM_001368894.2(PAX6):c.844_848del (p.Glu282fs)
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs) rs1592415625
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.958+1G>C rs1057517783
NM_001368894.2(PAX6):c.958+2T>C rs1131691549
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-9T>A rs1057517784
NM_001368894.2(PAX6):c.961del (p.Ser321fs) rs2134582202
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785

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