ClinVar Miner

List of variants in gene SALL1 reported as uncertain significance for Townes syndrome

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.676G>A (p.Val226Ile) rs149603480 0.00026
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn) rs201147024 0.00011
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_002968.3(SALL1):c.3886G>A (p.Gly1296Ser) rs766538484 0.00007
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg) rs114000443 0.00006
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe) rs148016347 0.00005
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys) rs199883962 0.00005
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.406G>A (p.Gly136Ser) rs139152599 0.00004
NM_002968.3(SALL1):c.986C>T (p.Thr329Ile) rs886043094 0.00004
NM_002968.3(SALL1):c.1006G>A (p.Gly336Ser) rs776766459 0.00003
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile) rs750975954 0.00003
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val) rs770994694 0.00003
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu) rs74886565 0.00003
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr) rs370527770 0.00003
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys) rs143517407 0.00003
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr) rs752206117 0.00003
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser) rs764123321 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser) rs758651425 0.00003
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile) rs768794489 0.00002
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr) rs776664263 0.00002
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg) rs765581420 0.00002
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser) rs759650758 0.00002
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys) rs377342041 0.00002
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val) rs1297554616 0.00002
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser) rs773784402 0.00002
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00002
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr) rs776395704 0.00002
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg) rs764423444 0.00002
NM_002968.3(SALL1):c.1037C>T (p.Ala346Val) rs779513054 0.00001
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser) rs1455978439 0.00001
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu) rs183142673 0.00001
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg) rs778754832 0.00001
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser) rs775639714 0.00001
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala) rs760757150 0.00001
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser) rs1291932129 0.00001
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys) rs774950085 0.00001
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val) rs766208261 0.00001
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser) rs752678352 0.00001
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu) rs749947651 0.00001
NM_002968.3(SALL1):c.2862C>T (p.Ser954=) rs775808496 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.3095C>T (p.Thr1032Ile) rs752822198 0.00001
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser) rs781484844 0.00001
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe) rs763725677 0.00001
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp) rs1352323090 0.00001
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu) rs763919896 0.00001
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro) rs573638901 0.00001
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile) rs1231648107 0.00001
NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val) rs1962320580 0.00001
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys) rs775499747 0.00001
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg) rs762993402 0.00001
NM_002968.3(SALL1):c.572T>C (p.Ile191Thr) rs1555475381 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu) rs1445941318 0.00001
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.1052C>T (p.Pro351Leu)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.120G>T (p.Lys40Asn)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg) rs762697248
NM_002968.3(SALL1):c.1214C>T (p.Pro405Leu)
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala) rs2143447009
NM_002968.3(SALL1):c.1276A>G (p.Arg426Gly)
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val) rs1418619556
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu) rs201203066
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser) rs149727960
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys) rs1027802595
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala) rs750142302
NM_002968.3(SALL1):c.1664T>A (p.Val555Asp)
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile) rs2506490347
NM_002968.3(SALL1):c.1757G>A (p.Ser586Asn)
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln) rs2506490304
NM_002968.3(SALL1):c.2002G>A (p.Glu668Lys)
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr) rs1288798415
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met) rs2506488256
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg) rs1195139692
NM_002968.3(SALL1):c.2338G>A (p.Val780Ile)
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly) rs762701025
NM_002968.3(SALL1):c.2416A>G (p.Met806Val) rs770519898
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys) rs1430757664
NM_002968.3(SALL1):c.268C>G (p.Pro90Ala)
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser) rs749198993
NM_002968.3(SALL1):c.2699A>G (p.Asn900Ser)
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg) rs1451625908
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly) rs2506485227
NM_002968.3(SALL1):c.2801G>A (p.Ser934Asn)
NM_002968.3(SALL1):c.2828G>C (p.Ser943Thr)
NM_002968.3(SALL1):c.2831T>C (p.Ile944Thr)
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.2920T>C (p.Ser974Pro)
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys) rs2143438583
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) rs377652797
NM_002968.3(SALL1):c.3680G>T (p.Ser1227Ile)
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) rs1962320266
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr) rs1393016727
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) rs553871743
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del) rs747995210
NM_002968.3(SALL1):c.469A>G (p.Ser157Gly)
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr) rs2506496999
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del) rs1555475414
NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly) rs1555475414
NM_002968.3(SALL1):c.541G>A (p.Asp181Asn)
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile) rs2143479380
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu) rs1422151716
NM_002968.3(SALL1):c.647G>C (p.Cys216Ser)
NM_002968.3(SALL1):c.664G>A (p.Gly222Ser)
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro) rs752432804
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro) rs2506494846
NM_002968.3(SALL1):c.952C>G (p.Pro318Ala)
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser) rs2506494300

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