List of variants reported as likely pathogenic for Teebi hypertelorism syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln)	rs1169891186	0.00001
NM_015330.6(SPECC1L):c.1246G>A (p.Ala416Thr)	rs1569420568
NM_015330.6(SPECC1L):c.1249A>C (p.Thr417Pro)	rs111653895
NM_015330.6(SPECC1L):c.1300G>A (p.Glu434Lys)	rs1569420632
NM_015330.6(SPECC1L):c.3026A>C (p.Tyr1009Ser)	rs1569438496

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