List of variants reported as pathogenic for Townes-Brocks syndrome by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys)	rs564164674	0.00010
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	rs1064793257	0.00001
NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter)	rs1064797092
NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys)
NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe)
NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)
NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)
NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter)	rs104894535
NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)	rs104894535
NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter)	rs137853084
NM_002968.3(SALL1):c.1270del (p.Gln424fs)	rs1597230349
NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs)	rs1597230341
NM_002968.3(SALL1):c.1347_1348del (p.His449fs)	rs1597230241
NM_002968.3(SALL1):c.792_793del (p.Leu264fs)	rs1597230909
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_002968.3(SALL1):c.995del (p.Pro332fs)	rs1597230687

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