ClinVar Miner

List of variants in gene PITX2 reported as likely benign for Rieger anomaly

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000325.6(PITX2):c.206-8G>C rs373965144 0.00024
NM_000325.6(PITX2):c.816G>A (p.Ala272=) rs778779105 0.00007
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.489C>T (p.Phe163=)
NM_000325.6(PITX2):c.588A>C (p.Leu196=)
NM_000325.6(PITX2):c.592A>T (p.Thr198Ser) rs2110431786
NM_000325.6(PITX2):c.633C>T (p.Pro211=)
NM_000325.6(PITX2):c.634C>T (p.Leu212=)
NM_000325.6(PITX2):c.927G>A (p.Pro309=)

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