ClinVar Miner

List of variants in gene SALL1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NC_000016.9:g.(?_51171003)_(51185172_?)del
NM_001127892.1(SALL1):c.*83_*87GCCCC[1] rs374006676
NM_001127892.1(SALL1):c.*920_*922CTT[2] rs527584319
NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs)
NM_001127892.1(SALL1):c.157_159AGC[11] (p.Ser62dup) rs113614842
NM_001127892.1(SALL1):c.157_159AGC[12] (p.Ser61_Ser62dup) rs113614842
NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) rs113614842
NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) rs1555475414
NM_001127892.1(SALL1):c.501_502del (p.Leu167fs)
NM_001127892.1(SALL1):c.704del (p.Pro235fs)
NM_001127892.1(SALL1):c.979del (p.Gln327fs)
NM_001127892.1(SALL1):c.986_987del (p.Arg329fs)
NM_002968.2(SALL1):c.*1016T>C rs886052073
NM_002968.2(SALL1):c.*1033dup rs551604859
NM_002968.2(SALL1):c.*1112dup rs551203456
NM_002968.2(SALL1):c.*125C>T rs886052080
NM_002968.2(SALL1):c.*192T>C rs3743767
NM_002968.2(SALL1):c.*437C>A rs371127619
NM_002968.2(SALL1):c.*45C>A rs774473806
NM_002968.2(SALL1):c.*550G>T rs377665001
NM_002968.2(SALL1):c.*558A>G rs886052079
NM_002968.2(SALL1):c.*563del rs886052078
NM_002968.2(SALL1):c.*588del rs35929381
NM_002968.2(SALL1):c.*592G>A rs886052077
NM_002968.2(SALL1):c.*646C>T rs143159240
NM_002968.2(SALL1):c.*705_*706del rs886052076
NM_002968.2(SALL1):c.*865A>C rs886052075
NM_002968.2(SALL1):c.*904C>T rs886052074
NM_002968.2(SALL1):c.*922T>G rs184690178
NM_002968.2(SALL1):c.*997C>A rs116971887
NM_002968.2(SALL1):c.1006G>A (p.Gly336Ser) rs776766459
NM_002968.2(SALL1):c.1014T>G (p.Ser338=) rs960886445
NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) rs137853084
NM_002968.2(SALL1):c.129C>T (p.His43=) rs368688611
NM_002968.2(SALL1):c.130G>A (p.Val44Ile) rs373744120
NM_002968.2(SALL1):c.1321A>G (p.Thr441Ala) rs886052084
NM_002968.2(SALL1):c.1322C>A (p.Thr441Asn) rs76275412
NM_002968.2(SALL1):c.1502A>G (p.Glu501Gly) rs749792542
NM_002968.2(SALL1):c.1731C>G (p.Pro577=) rs767216757
NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) rs146454164
NM_002968.2(SALL1):c.2008T>C (p.Phe670Leu) rs565545750
NM_002968.2(SALL1):c.2178G>A (p.Arg726=) rs144019351
NM_002968.2(SALL1):c.220G>A (p.Val74Ile) rs529479120
NM_002968.2(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) rs536108231
NM_002968.2(SALL1):c.2399A>G (p.Asp800Gly) rs372655572
NM_002968.2(SALL1):c.2544A>G (p.Gln848=) rs45459896
NM_002968.2(SALL1):c.2557T>G (p.Ser853Ala) rs771150625
NM_002968.2(SALL1):c.2574C>T (p.Leu858=) rs1965024
NM_002968.2(SALL1):c.263G>A (p.Ser88Asn) rs760971365
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs)
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966
NM_002968.2(SALL1):c.3222G>A (p.Ala1074=) rs61731131
NM_002968.2(SALL1):c.3277G>A (p.Val1093Met) rs371314603
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.3424A>G (p.Thr1142Ala) rs886052083
NM_002968.2(SALL1):c.3456C>T (p.His1152=) rs11645288
NM_002968.2(SALL1):c.351C>T (p.Asn117=) rs145806303
NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.2(SALL1):c.3711T>C (p.Tyr1237=) rs3743768
NM_002968.2(SALL1):c.3713C>A (p.Ala1238Glu) rs886052082
NM_002968.2(SALL1):c.3768G>A (p.Gln1256=) rs886052081
NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) rs4614723
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.389C>T (p.Pro130Leu) rs576713482
NM_002968.2(SALL1):c.390G>A (p.Pro130=) rs75156807
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.3929G>A (p.Arg1310His) rs372873373
NM_002968.2(SALL1):c.3942C>T (p.Phe1314=) rs189411650
NM_002968.2(SALL1):c.3947A>C (p.Glu1316Ala) rs375212546
NM_002968.2(SALL1):c.3947A>G (p.Glu1316Gly) rs375212546
NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) rs886052085
NM_002968.2(SALL1):c.44A>C (p.Asp15Ala) rs77265655
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.475A>G (p.Ser159Gly) rs13336129
NM_002968.2(SALL1):c.475_477delAGC rs113614842
NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) rs1555475415
NM_002968.2(SALL1):c.478G>A (p.Gly160Ser) rs199760974
NM_002968.2(SALL1):c.537C>T (p.Leu179=) rs200539812
NM_002968.2(SALL1):c.548C>A (p.Thr183Lys)
NM_002968.2(SALL1):c.649G>A (p.Gly217Ser) rs140165636
NM_002968.2(SALL1):c.676G>A (p.Val226Ile) rs149603480
NM_002968.2(SALL1):c.76+10C>G rs758439424
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.1324del (p.Ser442fs)
NM_002968.3(SALL1):c.1514A>G (p.His505Arg) rs776094507
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
NM_002968.3(SALL1):c.2287dup (p.Arg763fs)
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)
NM_002968.3(SALL1):c.2801del (p.Ser934fs)
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)
SALL1, 2-BP DEL, 3414AT

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