ClinVar Miner

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

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Total variants: 39
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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.2343G>C (p.Leu781=) rs60270998 0.05087
NM_002968.3(SALL1):c.2310C>T (p.Ile770=) rs61740811 0.04143
NM_002968.3(SALL1):c.2178G>A (p.Arg726=) rs144019351 0.01142
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.2544A>G (p.Gln848=) rs45459896 0.00931
NM_002968.3(SALL1):c.390G>A (p.Pro130=) rs75156807 0.00781
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00481
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00049
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_002968.3(SALL1):c.1200G>A (p.Ser400=) rs79302764 0.00022
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_002968.3(SALL1):c.39A>G (p.Gln13=) rs768989589 0.00003
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.3(SALL1):c.1731C>G (p.Pro577=) rs767216757
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)

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