ClinVar Miner

List of variants studied for anterior segment dysgenesis 3 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
FOXC1, 11-BP DEL
FOXC1, 22-BP INS, NT26
FOXC1, DUP
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_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946

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