ClinVar Miner

List of variants reported as uncertain significance for anterior segment dysgenesis 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
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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