ClinVar Miner

List of variants in gene RECQL4 reported by OMIM

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Total variants: 14
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HGVS dbSNP
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
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232
NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
RECQL4, GLU1091TER
RECQL4, IVS7, 1-BP DEL, +2

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