ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic for Rapadilino syndrome

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Total variants: 4
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HGVS dbSNP
NM_004260.3(RECQL4):c.1390+2delT rs386833843
NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
RECQL4, GLU1091TER
RECQL4, IVS7, 1-BP DEL, +2

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