ClinVar Miner

List of variants studied for anterior segment dysgenesis by OMIM

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter) rs369535598 0.00001
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys) rs587777572 0.00001
FOXC1, 22-BP INS, NT26
FOXC1, DUP
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) rs72549389
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs) rs2125316235
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000325.6(PITX2):c.365G>A (p.Arg122His) rs104893861
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) rs121909248
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) rs121907921
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter) rs878853172
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter) rs878853171
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly) rs878853177
NM_001378452.1(ITPR1):c.6510+3A>T rs878853173
NM_001378452.1(ITPR1):c.6808+5G>T rs878853174
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7793T>A (p.Ile2598Asn) rs1553758021
NM_001378452.1(ITPR1):c.7803T>G (p.Phe2601Leu) rs878853176
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del) rs878853175
NM_001453.3(FOXC1):c.153_163del (p.His52fs) rs2113111009
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr) rs104893953
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter) rs104893952
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) rs1411557416
NM_012186.3(FOXE3):c.942dup (p.Leu315fs) rs1570406175
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) rs387906793
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs) rs587777573
NM_012293.3(PXDN):c.2568del (p.Cys857fs) rs558163499
NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs) rs756064750
NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro) rs1057519340
NM_015692.5(CPAMD8):c.4408-1G>A rs369858688

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