ClinVar Miner

List of variants reported as likely pathogenic for Rapadilino syndrome

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Total variants: 12
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HGVS dbSNP
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1885_1888del (p.Arg629fs) rs386833846
NM_004260.3(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848
NM_004260.3(RECQL4):c.2059-1G>A rs386833849
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.3072del (p.Val1026fs) rs386833852
NM_004260.3(RECQL4):c.3214A>T (p.Arg1072Ter) rs386833853
NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.3(RECQL4):c.3599_3600del (p.Thr1200fs) rs386833854

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