ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter) rs373180788 0.00001
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) rs1564804342
NM_004260.4(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1568del (p.Ser523fs) rs886043102
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs) rs1564794448
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter) rs762028333
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457

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