ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_004260.3(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004260.3(RECQL4):c.517C>T (p.Gln173Ter) rs373180788

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