ClinVar Miner

List of variants in gene RECQL reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.215-287C>T rs76130258 0.04011
NM_002907.4(RECQL):c.215-286G>A rs76026988 0.03981
NM_002907.4(RECQL):c.215-169C>A rs77099696 0.03973
NM_002907.4(RECQL):c.215-234A>T rs79652499 0.03972
NM_002907.4(RECQL):c.1355+250G>A rs10492116 0.03263
NM_002907.4(RECQL):c.-434G>A rs71581963 0.02637
NM_002907.4(RECQL):c.949+76A>G rs73082666 0.01620
NM_002907.4(RECQL):c.215-86G>A rs4987216 0.01335
NM_002907.4(RECQL):c.395-133_395-126dup rs567843263 0.01268
NM_002907.4(RECQL):c.-476C>G rs75040446 0.00920
NM_002907.4(RECQL):c.78A>G (p.Gln26=) rs141458725 0.00419
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_002907.4(RECQL):c.-215C>T rs11557171 0.00349
NM_002907.4(RECQL):c.395-210G>A rs141307384 0.00347
NM_002907.4(RECQL):c.950-83T>C rs139395671 0.00344
NM_002907.4(RECQL):c.16+57T>C rs114768760 0.00342
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182 0.00110
NM_002907.4(RECQL):c.1631A>T (p.Lys544Met) rs74067193 0.00086
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) rs138278747 0.00055
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_002907.4(RECQL):c.417A>G (p.Pro139=) rs147788426 0.00034
NM_002907.4(RECQL):c.1114G>A (p.Val372Ile) rs2230003 0.00026
NM_002907.4(RECQL):c.1020T>C (p.His340=) rs141567619 0.00025
NM_002907.4(RECQL):c.1530C>G (p.Leu510=) rs373378428 0.00023
NM_002907.4(RECQL):c.1590A>G (p.Ala530=) rs71581968 0.00017
NM_002907.4(RECQL):c.309A>G (p.Thr103=) rs144888414 0.00012
NM_002907.4(RECQL):c.1657C>A (p.Gln553Lys) rs202203602 0.00010
NM_002907.4(RECQL):c.198C>T (p.Ala66=) rs754948157 0.00010
NM_002907.4(RECQL):c.345A>G (p.Thr115=) rs369137817 0.00010
NM_002907.4(RECQL):c.942G>C (p.Gly314=) rs774097655 0.00009
NM_002907.4(RECQL):c.993G>A (p.Thr331=) rs764491255 0.00005
NM_002907.4(RECQL):c.-45-4T>C rs755585235 0.00004
NM_002907.4(RECQL):c.135A>G (p.Lys45=) rs760544315 0.00004
NM_002907.4(RECQL):c.395-11_395-10insC rs1491569117 0.00004
NM_002907.4(RECQL):c.1536A>T (p.Pro512=) rs762453121 0.00003
NM_002907.4(RECQL):c.867+4T>C rs368804959 0.00003
NM_002907.4(RECQL):c.1107G>A (p.Val369=) rs774173984 0.00002
NM_002907.4(RECQL):c.31C>T (p.Leu11=) rs139252119 0.00002
NM_002907.4(RECQL):c.1356-7T>C rs370420341 0.00001
NM_002907.4(RECQL):c.1446T>C (p.Ser482=) rs767408144 0.00001
NM_002907.4(RECQL):c.165C>T (p.Ala55=) rs769541912 0.00001
NM_002907.4(RECQL):c.672T>C (p.Cys224=) rs375449297 0.00001
NM_002907.4(RECQL):c.87G>A (p.Thr29=) rs375011196 0.00001
NM_002907.4(RECQL):c.984A>G (p.Glu328=) rs766035660 0.00001
NM_002907.4(RECQL):c.1077A>G (p.Lys359=) rs970717805
NM_002907.4(RECQL):c.1098+6del rs757895481
NM_002907.4(RECQL):c.1146T>C (p.Asp382=) rs1405659459
NM_002907.4(RECQL):c.1539G>A (p.Leu513=) rs1591967911
NM_002907.4(RECQL):c.1569T>C (p.Gly523=) rs1001852793
NM_002907.4(RECQL):c.1668-160C>T rs572177296
NM_002907.4(RECQL):c.17-4A>G rs753773425
NM_002907.4(RECQL):c.192A>C (p.Ser64=) rs779491742
NM_002907.4(RECQL):c.214+22_214+24del rs140439673
NM_002907.4(RECQL):c.214+7_214+8dup rs140439673
NM_002907.4(RECQL):c.393T>C (p.Asp131=) rs781458665
NM_002907.4(RECQL):c.395-22_395-19dup rs10712738
NM_002907.4(RECQL):c.456A>G (p.Lys152=) rs1591984647
NM_002907.4(RECQL):c.502-103G>C rs115615222
NM_002907.4(RECQL):c.502-162G>A rs113080452
NM_002907.4(RECQL):c.701-4del rs1424768811
NM_002907.4(RECQL):c.868-118G>A rs115618231
NM_002907.4(RECQL):c.921C>T (p.Leu307=) rs138413466

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