ClinVar Miner

List of variants studied for Oculomaxillofacial dysostosis; Teebi hypertelorism syndrome 1

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=) rs143055101 0.00343
NM_015330.6(SPECC1L):c.153+5T>G rs143374533 0.00265
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala) rs6004132 0.00133
NM_015330.6(SPECC1L):c.463C>T (p.Arg155Cys) rs148203655 0.00035
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys) rs145506280 0.00016
NM_015330.6(SPECC1L):c.2801C>T (p.Ala934Val) rs201552465 0.00003
NM_015330.6(SPECC1L):c.2231C>T (p.Ala744Val) rs1409616304 0.00001
NM_015330.6(SPECC1L):c.2206C>T (p.His736Tyr)
NM_015330.6(SPECC1L):c.2745G>T (p.Glu915Asp)
NM_015330.6(SPECC1L):c.523A>G (p.Ile175Val)

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