ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.*454C>T rs6533526
NM_000325.6(PITX2):c.*471G>A rs75911264
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187
NM_153427.2(PITX2):c.-1024G>A
NM_153427.2(PITX2):c.-1068C>T
NM_153427.2(PITX2):c.-1111C>G
NM_153427.2(PITX2):c.-1311G>T
NM_153427.2(PITX2):c.-1335C>A
NM_153427.2(PITX2):c.-1385+12T>C
NM_153427.2(PITX2):c.-1532C>A
NM_153427.2(PITX2):c.-211G>A
NM_153427.2(PITX2):c.-362C>G
NM_153427.2(PITX2):c.-392G>T
NM_153427.2(PITX2):c.-485C>G
NM_153427.2(PITX2):c.-793C>A
NM_153427.2(PITX2):c.-79G>A
NM_153427.2(PITX2):c.-967C>T
NM_153427.2(PITX2):c.46+8C>G rs199896960

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