ClinVar Miner

List of variants reported by Eye Genetics Research Group, Children's Medical Research Institute

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_001886.3(CRYBA4):c.40-1G>C rs142090709 0.00358
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) rs548358901 0.00264
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) rs150800688 0.00072
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705 0.00013
NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly) rs147344332 0.00007
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) rs72549376 0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs) rs967959245 0.00001
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) rs566697767 0.00001
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) rs758404955 0.00001
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000325.6(PITX2):c.344G>A (p.Arg115His) rs104893862
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) rs121909248
NM_000325.6(PITX2):c.500dup (p.Asn168fs) rs1728875550
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp) rs864309685
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000496.2(CRYBB2):c.[343C>A;355G>A]
NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro) rs864309683
NM_001034853.2(RPGR):c.1415-9A>G rs2067278631
NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs) rs864309702
NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs) rs864309680
NM_001195.4(BFSP1):c.[1492delT];[812T>C]
NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser) rs557601555
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) rs144451841
NM_001291867.2(NHS):c.2770del (p.Glu924fs) rs864309679
NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter) rs111534978
NM_001368894.2(PAX6):c.1119del (p.Thr374fs) rs864309681
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn) rs864309686
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001453.3(FOXC1):c.1399C>T (p.Gln467Ter) rs1297907614
NM_001453.3(FOXC1):c.478_482dup (p.Met161fs) rs1762526126
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_001853.4(COL9A3):c.1107+1G>C rs1384292566
NM_001887.4(CRYBB1):c.368G>A (p.Arg123His) rs864309682
NM_003380.5(VIM):c.15del (p.Val6fs) rs864309690
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg) rs864309700
NM_004431.5(EPHA2):c.1978T>G (p.Phe660Val) rs864309699
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) rs1651887395
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) rs1651887603
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005360.5(MAF):c.819G>C (p.Glu273Asp) rs864309678
NM_005360.5(MAF):c.880C>T (p.Arg294Trp) rs864309695
NM_005360.5(MAF):c.915C>T (p.Cys305=) rs864309692
NM_006891.4(CRYGD):c.448dup (p.Asp150fs) rs864309701
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605
NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs) rs864309696
NM_012064.4(MIP):c.97C>T (p.Arg33Cys) rs864309693
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) rs199728419
NM_015692.5(CPAMD8):c.4408-1G>A rs369858688
NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs) rs864309689
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) rs587778872
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.260C>T (p.Thr87Met) rs864309687
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710
NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter) rs369489185

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