ClinVar Miner

List of variants studied for anterior segment dysgenesis by Eye Genetics Research Group, Children's Medical Research Institute

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) rs72549376 0.00001
NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs) rs967959245 0.00001
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
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_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
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_005267.5(GJA8):c.280G>C (p.Gly94Arg) rs1651887395
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) rs1651887603
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) rs199728419
NM_015692.5(CPAMD8):c.4408-1G>A rs369858688
NM_139057.4(ADAMTS17):c.526C>T (p.Arg176Ter) rs369489185

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