ClinVar Miner

List of variants in gene SALL1 studied for not provided

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Gene type:
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Total variants: 199
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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.3535-207G>A rs1465338 0.50410
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.3534+274G>C rs72789959 0.10301
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.76+187C>T rs146391431 0.02038
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.3535-152C>G rs114061800 0.00855
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.676G>A (p.Val226Ile) rs149603480 0.00026
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.1327G>A (p.Asp443Asn) rs374153597 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.3603C>T (p.Gly1201=) rs542678985 0.00012
NM_002968.3(SALL1):c.361A>G (p.Arg121Gly) rs377440481 0.00011
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.2283G>C (p.Pro761=) rs774128799 0.00009
NM_002968.3(SALL1):c.2373C>A (p.Gly791=) rs377295510 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.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 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.2278C>T (p.Pro760Ser) rs140384285 0.00005
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
NM_002968.3(SALL1):c.1326C>T (p.Ser442=) rs143605364 0.00004
NM_002968.3(SALL1):c.1872C>T (p.Ser624=) rs143548629 0.00004
NM_002968.3(SALL1):c.3021C>G (p.Gly1007=) rs138625168 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.986C>T (p.Thr329Ile) rs886043094 0.00004
NM_002968.3(SALL1):c.1144A>G (p.Ser382Gly) rs794727269 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.175C>T (p.Leu59=) rs529187255 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 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.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe) rs780478776 0.00002
NM_002968.3(SALL1):c.1037C>T (p.Ala346Val) rs779513054 0.00001
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.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.1485C>T (p.His495=) rs1279763997 0.00001
NM_002968.3(SALL1):c.2008T>C (p.Phe670Leu) rs565545750 0.00001
NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg) rs752288194 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.2549G>C (p.Ser850Thr) rs770243923 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser) rs1461765489 0.00001
NM_002968.3(SALL1):c.3242T>C (p.Leu1081Ser) rs1241832382 0.00001
NM_002968.3(SALL1):c.3380C>T (p.Pro1127Leu) rs748506953 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.373A>G (p.Met125Val) rs1017987206 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.3(SALL1):c.592G>A (p.Glu198Lys) rs372343403 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
GRCh37/hg19 16q12.1(chr16:51025932-51360215)x3
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_002968.3(SALL1):c.*83GCCCC[3] rs374006676
NM_002968.3(SALL1):c.*920CTT[2] rs527584319
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu) rs150467434
NM_002968.3(SALL1):c.1022T>C (p.Met341Thr) rs1372339294
NM_002968.3(SALL1):c.1025A>C (p.Asn342Thr) rs886042214
NM_002968.3(SALL1):c.104G>A (p.Arg35His) rs754846300
NM_002968.3(SALL1):c.1069G>A (p.Ala357Thr) rs2143447690
NM_002968.3(SALL1):c.1112C>G (p.Ser371Ter)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.1160C>T (p.Ala387Val)
NM_002968.3(SALL1):c.120G>A (p.Lys40=)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
NM_002968.3(SALL1):c.1230A>C (p.Gly410=)
NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)
NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu) rs201203066
NM_002968.3(SALL1):c.1380_1381del (p.Ser460fs) rs1064796960
NM_002968.3(SALL1):c.1393C>T (p.Gln465Ter) rs1057518273
NM_002968.3(SALL1):c.1405C>G (p.Arg469Gly)
NM_002968.3(SALL1):c.1405C>T (p.Arg469Cys) rs1057523061
NM_002968.3(SALL1):c.1441A>G (p.Ile481Val) rs2143445989
NM_002968.3(SALL1):c.1510C>A (p.Pro504Thr) rs2143445740
NM_002968.3(SALL1):c.1663G>T (p.Val555Phe)
NM_002968.3(SALL1):c.1665C>T (p.Val555=) rs201565524
NM_002968.3(SALL1):c.1732A>G (p.Ile578Val)
NM_002968.3(SALL1):c.1763dup (p.Gly589fs) rs1057518232
NM_002968.3(SALL1):c.1784C>T (p.Ser595Phe)
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)
NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn)
NM_002968.3(SALL1):c.2112C>A (p.Asp704Glu)
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)
NM_002968.3(SALL1):c.2315A>G (p.Gln772Arg) rs2143442043
NM_002968.3(SALL1):c.2336T>C (p.Val779Ala) rs2143441870
NM_002968.3(SALL1):c.2409dup (p.Glu804Ter) rs1597229025
NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg)
NM_002968.3(SALL1):c.2493C>G (p.Asp831Glu) rs1221318740
NM_002968.3(SALL1):c.2518A>G (p.Thr840Ala) rs2143441117
NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del) rs1438564053
NM_002968.3(SALL1):c.2573_2574delinsAA (p.Leu858Gln) rs2143440766
NM_002968.3(SALL1):c.2621A>C (p.Asn874Thr) rs971297683
NM_002968.3(SALL1):c.26C>G (p.Pro9Arg)
NM_002968.3(SALL1):c.2712_2715del (p.Gly906fs) rs1597228550
NM_002968.3(SALL1):c.2767A>G (p.Thr923Ala) rs761048130
NM_002968.3(SALL1):c.2803A>T (p.Thr935Ser)
NM_002968.3(SALL1):c.2983C>G (p.Arg995Gly)
NM_002968.3(SALL1):c.2986G>A (p.Gly996Ser)
NM_002968.3(SALL1):c.3068A>C (p.His1023Pro) rs1962364472
NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs) rs886042011
NM_002968.3(SALL1):c.3154C>T (p.Gln1052Ter) rs1057518131
NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu) rs1057523060
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.3173C>G (p.Ser1058Cys) rs2143437983
NM_002968.3(SALL1):c.3222G>C (p.Ala1074=) rs61731131
NM_002968.3(SALL1):c.325G>C (p.Asp109His)
NM_002968.3(SALL1):c.3305A>G (p.Asp1102Gly) rs886043770
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu) rs780221020
NM_002968.3(SALL1):c.3534+25C>T
NM_002968.3(SALL1):c.3534+40C>G rs7184489
NM_002968.3(SALL1):c.3535-44CT[6] rs142249003
NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser) rs1555474728
NM_002968.3(SALL1):c.3620G>T (p.Gly1207Val)
NM_002968.3(SALL1):c.3623G>A (p.Gly1208Asp) rs771150548
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) rs377652797
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)
NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro)
NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT (p.Pro130fs) rs2143451854
NM_002968.3(SALL1):c.38A>C (p.Gln13Pro)
NM_002968.3(SALL1):c.3963C>G (p.Ile1321Met) rs200583558
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[16] (p.Ser154_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[6] (p.Ser156_Ser159del)
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.463_475delinsG (p.Ser155_Ser159delinsGly) rs2143451190
NM_002968.3(SALL1):c.469_475delinsG (p.Ser157_Ser159delinsGly)
NM_002968.3(SALL1):c.475_476insAGC (p.Ser159delinsLysArg) rs2143451145
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) rs1555475415
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del)
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer)
NM_002968.3(SALL1):c.534A>C (p.Gln178His)
NM_002968.3(SALL1):c.559A>G (p.Asn187Asp)
NM_002968.3(SALL1):c.565_566dup (p.Val190fs) rs2143450333
NM_002968.3(SALL1):c.572T>C (p.Ile191Thr) rs1555475381
NM_002968.3(SALL1):c.633_634del (p.Gln212fs)
NM_002968.3(SALL1):c.652G>A (p.Gly218Arg)
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.3(SALL1):c.718C>T (p.Gln240Ter)
NM_002968.3(SALL1):c.727C>T (p.Gln243Ter) rs886044708
NM_002968.3(SALL1):c.76+26AC[5] rs200502187
NM_002968.3(SALL1):c.76+68_76+69del rs1962594158
NM_002968.3(SALL1):c.77-54G>A rs79146613
NM_002968.3(SALL1):c.77-91A>G rs59785450
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.824T>A (p.Leu275Ter) rs1962426127
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.939G>T (p.Val313=) rs1377611548
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971

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