ClinVar Miner

List of variants in gene RECQL4 reported as likely pathogenic for not provided

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Total variants: 8
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NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.2201-3A>G rs1554898541
NM_004260.3(RECQL4):c.2272C>T (p.Arg758Ter) rs758790200
NM_004260.3(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581
NM_004260.3(RECQL4):c.3523C>T (p.Gln1175Ter) rs879192998
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.3(RECQL4):c.752del (p.Ser251fs) rs1064796290
NM_004260.4(RECQL4):c.419del (p.Pro140fs) rs1406864413

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