ClinVar Miner

List of variants in gene combination AP4M1, TAF6 reported as uncertain significance for Alazami-Yuan syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139315.3(TAF6):c.1769C>A (p.Thr590Asn) rs138114559 0.00021
NM_139315.3(TAF6):c.1689A>G (p.Ser563=) rs768942294 0.00001
NM_139315.3(TAF6):c.1921A>G (p.Ser641Gly) rs1230699758 0.00001
NM_139315.3(TAF6):c.1412C>T (p.Ala471Val)
NM_139315.3(TAF6):c.1876_1878del (p.Ser626del) rs769880080

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