ClinVar Miner

List of variants in gene SALL1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00023
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.1738A>G (p.Ile580Val) rs761575154 0.00008
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.2278C>T (p.Pro760Ser) rs140384285 0.00005
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
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.175C>T (p.Leu59=) rs529187255 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 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.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg) rs752288194 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.373A>G (p.Met125Val) rs1017987206 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.1016C>T (p.Pro339Leu) rs150467434
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.1160C>T (p.Ala387Val)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)
NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)
NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu) rs201203066
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.1784C>T (p.Ser595Phe)
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.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.2621A>C (p.Asn874Thr) rs971297683
NM_002968.3(SALL1):c.26C>G (p.Pro9Arg)
NM_002968.3(SALL1):c.2767A>G (p.Thr923Ala) rs761048130
NM_002968.3(SALL1):c.2983C>G (p.Arg995Gly)
NM_002968.3(SALL1):c.3068A>C (p.His1023Pro) rs1962364472
NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu) rs1057523060
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.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.38A>C (p.Gln13Pro)
NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup) 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.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) rs1555475415
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.572T>C (p.Ile191Thr) rs1555475381
NM_002968.3(SALL1):c.652G>A (p.Gly218Arg)
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971

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