ClinVar Miner

List of variants in gene SALL1 reported as pathogenic for Townes-Brocks syndrome 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
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.1148del (p.Leu383fs)
NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)
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.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) rs2143446286
NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) rs1962410902
NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) rs1197587893
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) rs1597228568
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_002968.3(SALL1):c.709C>T (p.Gln237Ter) rs2143449624
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.949C>T (p.Pro317Ser) rs864621971
NM_002968.3(SALL1):c.953del (p.Pro318fs)
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.995del (p.Pro332fs) rs1597230687

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