ClinVar Miner

List of variants in gene SALL1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.2544A>G (p.Gln848=) rs45459896 0.00908
NM_002968.3(SALL1):c.390G>A (p.Pro130=) rs75156807 0.00781
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 0.00200
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00124
NM_002968.3(SALL1):c.3534+25C>T rs144390055 0.00095
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.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00048
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00026
NM_002968.3(SALL1):c.676G>A (p.Val226Ile) rs149603480 0.00026
NM_002968.3(SALL1):c.1200G>A (p.Ser400=) rs79302764 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00008
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_002968.3(SALL1):c.1257G>T (p.Leu419Phe) rs367642766 0.00006
NM_002968.3(SALL1):c.2803A>T (p.Thr935Ser) rs779974242 0.00003
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu) rs750444836 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser) rs775639714 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.2986G>A (p.Gly996Ser) rs1469523828 0.00001
NM_002968.3(SALL1):c.534A>C (p.Gln178His) rs1245797656 0.00001
NM_002968.3(SALL1):c.559A>G (p.Asn187Asp) rs755097071 0.00001
NM_002968.3(SALL1):c.572T>C (p.Ile191Thr) rs1555475381 0.00001
NM_002968.3(SALL1):c.*920CTT[2] rs527584319
NM_002968.3(SALL1):c.120G>A (p.Lys40=) rs767028554
NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala) rs2506492862
NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn) rs2506488543
NM_002968.3(SALL1):c.235G>A (p.Ala79Thr)
NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg) rs2506486834
NM_002968.3(SALL1):c.2494T>C (p.Cys832Arg)
NM_002968.3(SALL1):c.3470C>G (p.Thr1157Ser)
NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro) rs2506476611
NM_002968.3(SALL1):c.3966C>G (p.Val1322=)
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[9] (p.Ser159del) rs113614842
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[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer) rs1362562282
NM_002968.3(SALL1):c.633_634del (p.Gln212fs) rs2506495989
NM_002968.3(SALL1):c.718C>T (p.Gln240Ter) rs2506495603
NM_002968.3(SALL1):c.824T>A (p.Leu275Ter) rs1962426127

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