ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.412-11del rs886059007
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys) rs2133799119

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