ClinVar Miner

List of variants reported as pathogenic for anterior segment dysgenesis 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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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
GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3
NC_000004.11:g.(?_111539281)_(111554154_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
NM_000325.6(PITX2):c.264del (p.Lys89fs) rs1729007624
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) rs2110435742
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter) rs1051887
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
NM_000325.6(PITX2):c.365G>A (p.Arg122His) rs104893861
NM_000325.6(PITX2):c.373del (p.Ile125fs) rs1729001104
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) rs1729000976
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) rs121909248
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
NM_000325.6(PITX2):c.515del (p.Gln172fs)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) rs1728873590
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer) rs2110431524
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.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs) rs2113111662
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477

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