ClinVar Miner

List of variants in gene SALL1 studied for Townes-Brocks syndrome 1

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 115
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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.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
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.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.361A>G (p.Arg121Gly) rs377440481 0.00011
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.2283G>C (p.Pro761=) rs774128799 0.00009
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00007
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser) rs140384285 0.00005
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
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.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966 0.00003
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe) rs780478776 0.00002
NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser) rs767232639 0.00001
NM_002968.3(SALL1):c.130G>A (p.Val44Ile) rs373744120 0.00001
NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) rs748432190 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) rs1238657472 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_002968.3(SALL1):c.*1033dup rs551604859
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*563del rs886052078
NM_002968.3(SALL1):c.*588del rs35929381
NM_002968.3(SALL1):c.*705_*706del rs886052076
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_002968.3(SALL1):c.*920CTT[2] rs527584319
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu) rs150467434
NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)
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.1329T>A (p.Asp443Glu) rs201203066
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.1514A>G (p.His505Arg) rs776094507
NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)
NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr) rs2143444614
NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg) rs2143444520
NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) rs1197587893
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2129del (p.Ile710fs) rs2143442678
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.2605C>G (p.Gln869Glu)
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) rs1597228568
NM_002968.3(SALL1):c.269dup (p.Pro91fs) rs2143452445
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg) rs889576974
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe) rs148931484
NM_002968.3(SALL1):c.3381del (p.Arg1128fs) rs2143436744
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) rs377652797
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) rs376879952
NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val) rs1962322854
NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys) rs1962320101
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.3(SALL1):c.424G>C (p.Gly142Arg) rs553871743
NM_002968.3(SALL1):c.43G>A (p.Asp15Asn) rs886052085
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[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.494C>T (p.Ser165Phe) rs773094147
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
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.721A>G (p.Ile241Val) rs2143449563
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.833C>T (p.Ser278Phe)
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706
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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