ClinVar Miner

List of variants studied for Townes syndrome by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 254
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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.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
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.3120A>G (p.Thr1040=) rs146655918 0.00038
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.387C>T (p.Ala129=) rs147647889 0.00027
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00023
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.2752G>A (p.Ala918Thr) rs144782810 0.00018
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) rs138153478 0.00016
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val) rs578198178 0.00009
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002968.3(SALL1):c.2223G>A (p.Arg741=) rs1430868205 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002968.3(SALL1):c.63C>T (p.Leu21=) rs536125319 0.00006
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser) rs140165636 0.00006
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.3327G>A (p.Pro1109=) rs375357921 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=) rs1366906259 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.3890T>G (p.Leu1297Arg) rs767612617 0.00003
NM_002968.3(SALL1):c.39A>G (p.Gln13=) rs768989589 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val) rs1297554616 0.00002
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val) rs766208261 0.00002
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=) rs185996794 0.00002
NM_002968.3(SALL1):c.1014T>G (p.Ser338=) rs960886445 0.00001
NM_002968.3(SALL1):c.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile) rs768794489 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 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.3409A>G (p.Asn1137Asp) rs1352323090 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
NC_000016.9:g.(?_51185057)_(51185152_?)del
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.2(SALL1):c.76+10C>G rs758439424
NM_002968.3(SALL1):c.1027dup (p.Ile343fs) rs2143448046
NM_002968.3(SALL1):c.1028dup (p.Leu344fs) rs2143448019
NM_002968.3(SALL1):c.1030T>C (p.Leu344=)
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser)
NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)
NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
NM_002968.3(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.3(SALL1):c.1225A>G (p.Ile409Val)
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)
NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)
NM_002968.3(SALL1):c.1350G>A (p.Lys450=)
NM_002968.3(SALL1):c.1362C>T (p.Cys454=)
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)
NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs) rs2143446012
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)
NM_002968.3(SALL1):c.1566G>A (p.Thr522=)
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)
NM_002968.3(SALL1):c.1665C>T (p.Val555=) rs201565524
NM_002968.3(SALL1):c.1716G>A (p.Thr572=)
NM_002968.3(SALL1):c.1728C>A (p.Ala576=)
NM_002968.3(SALL1):c.1731C>G (p.Pro577=) rs767216757
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)
NM_002968.3(SALL1):c.1854A>G (p.Pro618=) rs2143444187
NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)
NM_002968.3(SALL1):c.2046A>G (p.Ser682=)
NM_002968.3(SALL1):c.2070G>A (p.Lys690=)
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)
NM_002968.3(SALL1):c.2105C>T (p.Ala702Val)
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)
NM_002968.3(SALL1):c.2181A>G (p.Thr727=) rs1962388882
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)
NM_002968.3(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
NM_002968.3(SALL1):c.2356C>A (p.Arg786=)
NM_002968.3(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)
NM_002968.3(SALL1):c.2416A>G (p.Met806Val)
NM_002968.3(SALL1):c.2436C>A (p.Ser812=)
NM_002968.3(SALL1):c.243A>C (p.Pro81=)
NM_002968.3(SALL1):c.2460C>T (p.Asp820=)
NM_002968.3(SALL1):c.246C>T (p.Pro82=)
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
NM_002968.3(SALL1):c.2511C>A (p.Ile837=)
NM_002968.3(SALL1):c.2535C>T (p.Asp845=)
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)
NM_002968.3(SALL1):c.2589C>T (p.Ile863=)
NM_002968.3(SALL1):c.2643A>G (p.Leu881=)
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser) rs749198993
NM_002968.3(SALL1):c.2742T>C (p.Ala914=)
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)
NM_002968.3(SALL1):c.2793G>A (p.Pro931=)
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup) rs760807997
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)
NM_002968.3(SALL1):c.2805G>A (p.Thr935=)
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.2862C>T (p.Ser954=)
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)
NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly)
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)
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.3180C>T (p.Leu1060=)
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)
NM_002968.3(SALL1):c.3537A>G (p.Val1179=)
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.359A>T (p.Asp120Val)
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)
NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)
NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)
NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) rs1962320266
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)
NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)
NM_002968.3(SALL1):c.3966C>T (p.Val1322=)
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)
NM_002968.3(SALL1):c.420del (p.Ser141fs) rs1962442258
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) rs553871743
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)
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[8] (p.Ser158_Ser159del)
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.45C>T (p.Asp15=)
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)
NM_002968.3(SALL1):c.471C>T (p.Ser157=) rs1314370026
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.549A>G (p.Thr183=)
NM_002968.3(SALL1):c.567C>G (p.Ser189=)
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)
NM_002968.3(SALL1):c.648C>T (p.Cys216=)
NM_002968.3(SALL1):c.651C>T (p.Gly217=)
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu)
NM_002968.3(SALL1):c.663G>C (p.Gly221=)
NM_002968.3(SALL1):c.691del (p.Glu231fs) rs2143449682
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)
NM_002968.3(SALL1):c.750dup (p.Arg251fs) rs1962428520
NM_002968.3(SALL1):c.76+15C>A
NM_002968.3(SALL1):c.76+5G>A
NM_002968.3(SALL1):c.77-5T>A
NM_002968.3(SALL1):c.801T>C (p.Ser267=)
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.819T>A (p.Gly273=)
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)
NM_002968.3(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.3(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs) rs2143448859
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
NM_002968.3(SALL1):c.878_887del (p.Leu293fs)
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs) rs2143448771
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)
NM_002968.3(SALL1):c.9G>A (p.Arg3=)

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