ClinVar Miner

List of variants in gene RECQL4 reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs) rs1554898257
NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) rs1554896308

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