ClinVar Miner

List of variants studied for Teebi hypertelorism syndrome

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met) rs204718 0.99996
NM_015330.6(SPECC1L):c.2560+46C>T rs5760351 0.55348
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=) rs3747113 0.22506
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00545
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe) rs35783914 0.00439
NM_015330.6(SPECC1L):c.1195C>T (p.Arg399Trp) rs2040735453 0.00001
NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln) rs1169891186 0.00001
NM_015330.6(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.6(SPECC1L):c.1198_1203del (p.Ile400_His401del) rs1569420537
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.1258G>A (p.Glu420Lys) rs1569420590
NM_015330.6(SPECC1L):c.1260G>C (p.Glu420Asp) rs1569420596
NM_015330.6(SPECC1L):c.1300G>A (p.Glu434Lys) rs1569420632
NM_015330.6(SPECC1L):c.3026A>C (p.Tyr1009Ser) rs1569438496
NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln) rs1555874726
NM_015330.6(SPECC1L):c.836A>G (p.Glu279Gly) rs2040728349

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