ClinVar Miner

List of variants studied for anterior segment dysgenesis 3 by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
FOXC1, 22-BP INS, NT26
FOXC1, DUP
NM_000325.6(PITX2):c.365G>A (p.Arg122His) rs104893861
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) rs121909248
NM_001453.3(FOXC1):c.153_163del (p.His52fs) rs2113111009
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957

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