ClinVar Miner

List of variants in gene SALL1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 74
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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.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.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 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.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_002968.3(SALL1):c.1327G>A (p.Asp443Asn) rs374153597 0.00022
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_002968.3(SALL1):c.3603C>T (p.Gly1201=) rs542678985 0.00012
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.63C>T (p.Leu21=) rs536125319 0.00006
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00003
NM_002968.3(SALL1):c.2008T>C (p.Phe670Leu) rs565545750 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.2967C>T (p.Leu989=) rs759617992 0.00001
NM_002968.3(SALL1):c.*9G>A
NM_002968.3(SALL1):c.1143C>T (p.Ser381=)
NM_002968.3(SALL1):c.1527C>T (p.Asn509=)
NM_002968.3(SALL1):c.1568G>A (p.Ser523Asn)
NM_002968.3(SALL1):c.1610C>G (p.Pro537Arg)
NM_002968.3(SALL1):c.1837G>A (p.Glu613Lys)
NM_002968.3(SALL1):c.1867A>G (p.Lys623Glu)
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
NM_002968.3(SALL1):c.1992G>A (p.Pro664=)
NM_002968.3(SALL1):c.211G>C (p.Val71Leu)
NM_002968.3(SALL1):c.2121G>A (p.Glu707=)
NM_002968.3(SALL1):c.2225_2226del (p.Ala742fs)
NM_002968.3(SALL1):c.2397C>T (p.Pro799=)
NM_002968.3(SALL1):c.242del (p.Pro81fs)
NM_002968.3(SALL1):c.24G>A (p.Lys8=)
NM_002968.3(SALL1):c.2518A>G (p.Thr840Ala) rs2143441117
NM_002968.3(SALL1):c.2638C>G (p.Gln880Glu)
NM_002968.3(SALL1):c.2643A>C (p.Leu881=)
NM_002968.3(SALL1):c.270T>A (p.Pro90=)
NM_002968.3(SALL1):c.2928C>T (p.His976=)
NM_002968.3(SALL1):c.3117C>T (p.Ser1039=)
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3535-44CT[6] rs142249003
NM_002968.3(SALL1):c.3855C>G (p.Leu1285=)
NM_002968.3(SALL1):c.388C>G (p.Pro130Ala)
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.44A>C (p.Asp15Ala) rs77265655
NM_002968.3(SALL1):c.472_475delinsG (p.Ser158_Ser159delinsGly)
NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del)
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly)
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.583G>A (p.Val195Ile)
NM_002968.3(SALL1):c.639A>G (p.Glu213=)
NM_002968.3(SALL1):c.76+26AC[5] rs200502187
NM_002968.3(SALL1):c.787G>T (p.Asp263Tyr)
NM_002968.3(SALL1):c.801T>C (p.Ser267=)
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)

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