ClinVar Miner

List of variants in gene RECQL4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.2059-16A>G rs35334991 0.01521
NM_004260.4(RECQL4):c.1258+91G>T rs34038879 0.01168
NM_004260.4(RECQL4):c.355-37C>T rs34116880 0.01161
NM_004260.4(RECQL4):c.2058+47T>C rs752664060 0.01083
NM_004260.4(RECQL4):c.1620+82C>T rs34381903 0.01046
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1258+104C>T rs34607025 0.00960
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.1620+33A>T rs35530621 0.00680
NM_004260.4(RECQL4):c.1132-23C>G rs35481163 0.00679
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.3394-39C>T rs188078422 0.00321
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.3394-11T>C rs370677156 0.00158
NM_004260.4(RECQL4):c.2058+44G>C rs757279463 0.00142
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) rs146398243 0.00122
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_004260.4(RECQL4):c.1847A>G (p.Asn616Ser) rs199654783 0.00073
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.1864C>T (p.Leu622=) rs373717016 0.00019
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
NM_004260.4(RECQL4):c.2769G>A (p.Leu923=) rs368618566 0.00011
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1621-180_1621-179del rs139872507
NM_004260.4(RECQL4):c.2058+98A>T rs2620653
NM_004260.4(RECQL4):c.2059-26_2059-20del rs145577986
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.355-24G>C rs35058172
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.520C>T (p.His174Tyr) rs369382124

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