ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.2206G>A (p.Ala736Thr) rs864309583
NM_004260.4(RECQL4):c.929C>T (p.Pro310Leu) rs368504960

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