ClinVar Miner

List of variants in gene SALL1 reported as benign for Townes syndrome

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Total variants: 19
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NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) rs146454164
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.2544A>G (p.Gln848=) rs45459896
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.292A>G (p.Met98Val) rs28643388
NM_002968.2(SALL1):c.3222G>A (p.Ala1074=) rs61731131
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.390G>A (p.Pro130=) rs75156807
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.3942C>T (p.Phe1314=) rs189411650
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.3(SALL1):c.448_450AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448_450AGC[13] (p.Ser157_Ser159dup) rs113614842

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