ClinVar Miner

List of variants reported as uncertain significance for anterior segment dysgenesis 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) rs1564991469
NM_005029.4(PITX3):c.414G>T (p.Gly138=) rs1554934124
NM_005029.4(PITX3):c.640_656del (p.Ala214fs) rs1411557416
NM_005029.4(PITX3):c.726_728CGC[6] (p.Ala250dup)
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) rs900562270
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly)
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
NM_012186.3(FOXE3):c.575_580CGCCCG[1] (p.192_193AP[1])
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg)
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser)
NM_012186.3(FOXE3):c.837_843CCCGCTG[3] (p.Glu284delinsAlaArgTer)
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu)
NM_153427.2(PITX2):c.*119T>A rs765040142
NM_153427.2(PITX2):c.*264A>C rs886059006
NM_153427.2(PITX2):c.*370G>C rs886059005
NM_153427.2(PITX2):c.*373_*375GTT[1] rs886059004
NM_153427.2(PITX2):c.*522T>C rs188349821
NM_153427.2(PITX2):c.*572T>C rs886059003
NM_153427.2(PITX2):c.*611A>G rs886059002
NM_153427.2(PITX2):c.253-11delA rs886059007

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