ClinVar Miner

List of variants in gene PITX2 reported as likely benign for Irido-corneo-trabecular dysgenesis

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_153427.2(PITX2):c.-1532C>A rs117231596

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