ClinVar Miner

List of variants in gene RECQL4 reported by GeneDx

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Total variants: 22
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HGVS dbSNP
NM_004260.3(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.3(RECQL4):c.132A>G (p.Glu44=) rs2306386
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.3(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892
NM_004260.3(RECQL4):c.171C>T (p.Gly57=) rs758179747
NM_004260.3(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.3(RECQL4):c.2189C>T (p.Pro730Leu) rs1554898674
NM_004260.3(RECQL4):c.2201-3A>G rs1554898541
NM_004260.3(RECQL4):c.2272C>T (p.Arg758Ter) rs758790200
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3394-11T>C rs370677156
NM_004260.3(RECQL4):c.517C>T (p.Gln173Ter) rs373180788
NM_004260.3(RECQL4):c.738C>T (p.Ser246=) rs4244613
NM_004260.3(RECQL4):c.752del (p.Ser251fs) rs1064796290
NM_004260.3(RECQL4):c.801G>C (p.Glu267Asp) rs4244612
NM_004260.3(RECQL4):c.85-13G>T rs568000575

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