ClinVar Miner

List of variants studied for Rieger anomaly by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_000325.6(PITX2):c.264del (p.Lys89fs)
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.373del (p.Ile125fs)
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
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.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000325.6(PITX2):c.916G>A (p.Val306Met) rs760790139
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)

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