ClinVar Miner

List of variants in gene DACT1 reported as pathogenic for Townes-Brocks syndrome 2

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys) rs564164674 0.00010
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)

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