ClinVar Miner

List of variants in gene SALL1 reported as uncertain significance for Townes-Brocks syndrome 1

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Total variants: 35
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HGVS dbSNP
NM_001127892.1(SALL1):c.*920_*922CTT[2] rs527584319
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_002968.2(SALL1):c.*1016T>C rs886052073
NM_002968.2(SALL1):c.*1033dup rs551604859
NM_002968.2(SALL1):c.*125C>T rs886052080
NM_002968.2(SALL1):c.*45C>A rs774473806
NM_002968.2(SALL1):c.*558A>G rs886052079
NM_002968.2(SALL1):c.*563del rs886052078
NM_002968.2(SALL1):c.*592G>A rs886052077
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.130G>A (p.Val44Ile) rs373744120
NM_002968.2(SALL1):c.1321A>G (p.Thr441Ala) rs886052084
NM_002968.2(SALL1):c.1502A>G (p.Glu501Gly) rs749792542
NM_002968.2(SALL1):c.2399A>G (p.Asp800Gly) rs372655572
NM_002968.2(SALL1):c.2557T>G (p.Ser853Ala) rs771150625
NM_002968.2(SALL1):c.3277G>A (p.Val1093Met) rs371314603
NM_002968.2(SALL1):c.3424A>G (p.Thr1142Ala) rs886052083
NM_002968.2(SALL1):c.351C>T (p.Asn117=) rs145806303
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.3929G>A (p.Arg1310His) rs372873373
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.475_477delAGC rs113614842
NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) rs1555475415
NM_002968.2(SALL1):c.649G>A (p.Gly217Ser) rs140165636
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.3(SALL1):c.1514A>G (p.His505Arg) rs776094507
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)

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