ClinVar Miner

List of variants reported as benign 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.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.*588del rs35929381
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842

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