ClinVar Miner

List of variants in gene PITX2 studied for anterior segment dysgenesis 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_153427.2(PITX2):c.*119T>A rs765040142
NM_153427.2(PITX2):c.*176A>T rs567517676
NM_153427.2(PITX2):c.*264A>C rs886059006
NM_153427.2(PITX2):c.*340A>G rs551209662
NM_153427.2(PITX2):c.*370G>C rs886059005
NM_153427.2(PITX2):c.*373_*375GTT[1] rs886059004
NM_153427.2(PITX2):c.*454C>T rs6533526
NM_153427.2(PITX2):c.*471G>A rs75911264
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
NM_153427.2(PITX2):c.403G>A (p.Ala135Thr) rs77144743
NM_153427.2(PITX2):c.459T>G (p.Ser153=) rs35946364
NM_153427.2(PITX2):c.480A>T (p.Ser160=) rs141176394
NM_153427.2(PITX2):c.65A>C (p.Gln22Pro) rs201628949
NM_153427.2(PITX2):c.660G>A (p.Pro220=) rs148191851
NM_153427.2(PITX2):c.703C>T (p.Leu235=) rs139401187

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