ClinVar Miner

List of variants reported as likely pathogenic for Townes-Brocks syndrome 1

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2129del (p.Ile710fs) rs2143442678
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.269dup (p.Pro91fs) rs2143452445
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_002968.3(SALL1):c.3381del (p.Arg1128fs) rs2143436744
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706

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