ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_001127892.1(SALL1):c.*920_*922CTT[2] rs527584319
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.*1033dup rs551604859
NM_002968.2(SALL1):c.*563del rs886052078
NM_002968.2(SALL1):c.*705_*706del rs886052076
NM_002968.2(SALL1):c.130G>A (p.Val44Ile) rs373744120
NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) rs886052085
NM_002968.2(SALL1):c.475_477delAGC rs113614842
NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) rs1555475415
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.3782C>T (p.Pro1261Leu)
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367
NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)
NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549

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