ClinVar Miner

List of variants studied for anterior segment dysgenesis 1 by Invitae

Included ClinVar conditions (4):
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Total variants: 15
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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.640_656dup (p.Gly220fs) 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.587G>C (p.Gly196Ala) rs281865461
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)

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