ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic for Rothmund-Thomson syndrome

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Gene type:
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Total variants: 10
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NM_004260.3(RECQL4):c.1149G>A (p.Trp383Ter) rs1564804479
NM_004260.3(RECQL4):c.1391-1G>A rs117642173
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.3(RECQL4):c.1704+1G>A rs760363252
NM_004260.3(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.3(RECQL4):c.2059-1G>C rs386833849
NM_004260.3(RECQL4):c.2059-1G>T rs386833849
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229
NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) rs752729755

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