ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
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.3523C>T (p.Gln1175Ter) rs879192998
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.3(RECQL4):c.752delG (p.Ser251Thrfs) rs1064796290

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