ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs)
NM_001127892.1(SALL1):c.501_502del (p.Leu167fs)
NM_001127892.1(SALL1):c.704del (p.Pro235fs)
NM_001127892.1(SALL1):c.979del (p.Gln327fs)
NM_001127892.1(SALL1):c.986_987del (p.Arg329fs)
NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) rs137853084
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)
SALL1, 2-BP DEL, 3414AT

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