ClinVar Miner

List of variants studied for anterior segment dysgenesis 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
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.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.412-11del rs886059007

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