ClinVar Miner

List of variants studied for Townes-Brocks syndrome 2

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001079520.2(DACT1):c.268C>T (p.Leu90=) rs2003021 0.56249
NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val) rs17832998 0.27873
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) rs139223977 0.00212
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) rs77323631 0.00146
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys) rs564164674 0.00010
NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile) rs2047696489 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.1703C>T (p.Thr568Met)
NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)
NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys)
NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)

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