List of variants in gene PITX2 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000325.6(PITX2):c.273G>A (p.Arg91=)	rs149288560	0.00046
NM_000325.6(PITX2):c.639A>T (p.Ser213=)	rs141176394	0.00029
NM_000325.6(PITX2):c.215A>G (p.Lys72Arg)	rs909606889	0.00006
NM_000325.6(PITX2):c.160C>T (p.Leu54=)	rs137987101	0.00003
NM_000325.6(PITX2):c.812A>T (p.Tyr271Phe)	rs371238455	0.00003
NM_153427.3(PITX2):c.46+475G>A	rs760317329	0.00002
NM_000325.1(PITX2):c.30G>C (p.Ser10=)	rs746215581	0.00001
NM_153427.3(PITX2):c.46+485C>T	rs150684621	0.00001
NM_000325.6(PITX2):c.17G>T (p.Gly6Val)	rs794726884
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)	rs104893859
NM_153426.3(PITX2):c.46+7_46+8insGT	rs797044711
NM_153426.3(PITX2):c.46+8C>T	rs199896960

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