ClinVar Miner

List of variants in gene SALL1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
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.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415

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