List of variants studied for Alazami-Yuan syndrome

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_139315.3(TAF6):c.1159-16T>C	rs2272338	0.57583
NM_139315.3(TAF6):c.455-45dup	rs4134904	0.57570
NM_139315.3(TAF6):c.398-12C>T	rs4134903	0.24465
NM_139315.3(TAF6):c.1904C>T (p.Pro635Leu)	rs79147701	0.00121
NM_139315.3(TAF6):c.1769C>A (p.Thr590Asn)	rs138114559	0.00021
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	rs374993554	0.00002
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_016648.4(LARP7):c.1669-1_1671del	rs778909076
NM_016648.4(LARP7):c.290C>A (p.Ser97Ter)
NM_139315.3(TAF6):c.*42T>C	rs1050542
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)	rs727503778
NM_139315.3(TAF6):c.1412C>T (p.Ala471Val)
NM_139315.3(TAF6):c.1876_1878del (p.Ser626del)	rs769880080
NM_139315.3(TAF6):c.243+29del	rs34119670

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