ClinVar Miner

List of variants reported as likely benign 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: 9
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HGVS dbSNP
NM_153427.2(PITX2):c.*176A>T rs567517676
NM_153427.2(PITX2):c.*340A>G rs551209662
NM_153427.2(PITX2):c.*471G>A rs75911264
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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