ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic for not provided

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Total variants: 13
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NM_004260.3(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748
NM_004260.3(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.3(RECQL4):c.1259-1G>A rs372380880
NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.3(RECQL4):c.1568del (p.Ser523fs) rs886043102
NM_004260.3(RECQL4):c.1704+1G>A rs760363252
NM_004260.3(RECQL4):c.2464-1G>C rs398124117
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.2752G>T (p.Glu918Ter)
NM_004260.3(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004260.3(RECQL4):c.517C>T (p.Gln173Ter) rs373180788
NM_004260.3(RECQL4):c.82C>T (p.Gln28Ter) rs794726912

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