ClinVar Miner

List of variants reported as likely pathogenic for anterior segment dysgenesis

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952 0.00010
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299 0.00001
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NM_012186.3(FOXE3):c.181del (p.Arg61fs) rs1646883385 0.00001
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NC_000011.10:g.(?_31789914)_(31790880_?)del
NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs) rs2125314883
NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)
NM_000104.4(CYP1B1):c.1140dup (p.Val381fs)
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe)
NM_000104.4(CYP1B1):c.1409G>A (p.Cys470Tyr) rs104894979
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000104.4(CYP1B1):c.158del (p.Gly53fs)
NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)
NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) rs944452644
NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)
NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)
NM_000104.4(CYP1B1):c.717C>A (p.Ser239Arg)
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) rs1558603396
NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly)
NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) rs1729003669
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)
NM_001368894.2(PAX6):c.10+1635_70del
NM_001368894.2(PAX6):c.1074+3_1074+6del rs2134572801
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
NM_001368894.2(PAX6):c.1225+5G>T
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln) rs2135096558
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu) rs2135096558
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) rs121907919
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) rs1592433640
NM_001368894.2(PAX6):c.724+1G>A
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) rs1950629763
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-3_959-2del
NM_001378452.1(ITPR1):c.4885C>T (p.Gln1629Ter)
NM_001378452.1(ITPR1):c.5980-17G>A rs2046415471
NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer) rs2106492882
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7811T>C (p.Leu2604Pro)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
NM_001453.3(FOXC1):c.1157del (p.Gly386fs) rs1762550387
NM_001453.3(FOXC1):c.174del (p.Gly59fs) rs2113111101
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile) rs727503932
NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)
NM_001453.3(FOXC1):c.315C>G (p.Tyr105Ter)
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser) rs1581373773
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys) rs886041355
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter) rs867581817
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup) rs1183655796
NM_001453.3(FOXC1):c.518G>A (p.Arg173His) rs1762526692
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) rs1651887395
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) rs1651887603
NM_006744.4(RBP4):c.383A>G (p.Asp128Gly)
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) rs2124042297
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) rs774505755
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) rs772347736
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu) rs2124042660
NM_012186.3(FOXE3):c.388G>T (p.Val130Phe)
NM_012293.3(PXDN):c.1018+1G>A
NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg) rs1558489563
NM_012293.3(PXDN):c.3743+2T>G
NM_015692.5(CPAMD8):c.-55G>A
NM_015692.5(CPAMD8):c.1758+1_1758+4del
NM_015692.5(CPAMD8):c.2070+1G>C rs374939930
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) rs199728419

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