List of variants in gene PITX2 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln)
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln)	rs104893857
NM_000325.6(PITX2):c.344G>A (p.Arg115His)	rs104893862
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro)	rs104893858
NM_000325.6(PITX2):c.365G>A (p.Arg122His)	rs104893861
NM_000325.6(PITX2):c.406G>C (p.Val136Leu)	rs121909249
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)	rs121909248
NM_000325.6(PITX2):c.411+5G>C	rs1560590094
NM_000325.6(PITX2):c.412-11A>G	rs1198152064
NM_000325.6(PITX2):c.412-2A>T	rs1553922583
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)	rs387906810
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)	rs104893859
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)	rs104893860

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