ClinVar Miner

List of variants in gene RECQL4 studied for Inborn genetic diseases

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.2149G>A (p.Ala717Thr) rs970075256 0.00024
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.944C>T (p.Ser315Leu) rs376493359 0.00021
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu) rs550470182 0.00010
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.392G>A (p.Gly131Glu) rs542844885 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.778G>A (p.Glu260Lys) rs370919817 0.00005
NM_004260.4(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.2338C>T (p.Arg780Trp) rs372741479 0.00004
NM_004260.4(RECQL4):c.784C>T (p.Arg262Trp) rs781314533 0.00004
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu) rs372664774 0.00003
NM_004260.4(RECQL4):c.2203C>T (p.Arg735Cys) rs760748569 0.00003
NM_004260.4(RECQL4):c.2244G>A (p.Met748Ile) rs767427869 0.00003
NM_004260.4(RECQL4):c.1073T>C (p.Met358Thr) rs376652305 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1969G>A (p.Ala657Thr) rs993147176 0.00002
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.1046A>G (p.Asp349Gly) rs566907631 0.00001
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.1484-3C>T rs372583903 0.00001
NM_004260.4(RECQL4):c.1661A>G (p.His554Arg) rs779426316 0.00001
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val) rs1259051495 0.00001
NM_004260.4(RECQL4):c.1828C>T (p.Leu610Phe) rs751453635 0.00001
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr) rs747827741 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.220G>C (p.Glu74Gln) rs765583077 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu) rs1827189895 0.00001
NM_004260.4(RECQL4):c.631G>C (p.Asp211His) rs776528292 0.00001
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe) rs1316434470 0.00001
NM_004260.4(RECQL4):c.743G>A (p.Arg248His) rs759352592 0.00001
NM_004260.4(RECQL4):c.859G>A (p.Glu287Lys) rs1383587887 0.00001
NM_004260.4(RECQL4):c.940C>T (p.Pro314Ser) rs538222166 0.00001
NM_004260.4(RECQL4):c.1057T>G (p.Tyr353Asp) rs1387465313
NM_004260.4(RECQL4):c.1086C>G (p.His362Gln) rs1828136142
NM_004260.4(RECQL4):c.1099C>G (p.Arg367Gly) rs531175632
NM_004260.4(RECQL4):c.1189G>A (p.Val397Ile) rs867681178
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln) rs548957135
NM_004260.4(RECQL4):c.1270G>C (p.Asp424His) rs765611938
NM_004260.4(RECQL4):c.1283T>C (p.Val428Ala)
NM_004260.4(RECQL4):c.1333A>G (p.Ser445Gly)
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1705-6C>T rs1554899989
NM_004260.4(RECQL4):c.1778C>T (p.Ala593Val)
NM_004260.4(RECQL4):c.1958C>T (p.Ala653Val) rs1478522762
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser) rs993147176
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2165C>G (p.Thr722Ser) rs985482776
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2352G>A (p.Arg784=) rs2130678153
NM_004260.4(RECQL4):c.2512G>A (p.Asp838Asn)
NM_004260.4(RECQL4):c.2597G>A (p.Gly866Glu) rs1827541354
NM_004260.4(RECQL4):c.2737T>G (p.Leu913Val)
NM_004260.4(RECQL4):c.2872G>A (p.Ala958Thr) rs1564791450
NM_004260.4(RECQL4):c.2961T>A (p.Phe987Leu) rs1060501363
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3063G>A (p.Arg1021=)
NM_004260.4(RECQL4):c.3121G>A (p.Gly1041Arg) rs2130659641
NM_004260.4(RECQL4):c.322C>T (p.Arg108Trp)
NM_004260.4(RECQL4):c.3403T>C (p.Trp1135Arg)
NM_004260.4(RECQL4):c.3497G>C (p.Gly1166Ala)
NM_004260.4(RECQL4):c.3503G>A (p.Gly1168Glu)
NM_004260.4(RECQL4):c.3520G>A (p.Ala1174Thr)
NM_004260.4(RECQL4):c.3533G>T (p.Gly1178Val)
NM_004260.4(RECQL4):c.562C>G (p.Pro188Ala)
NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter) rs1554902811
NM_004260.4(RECQL4):c.818C>T (p.Ala273Val) rs1349749745
NM_004260.4(RECQL4):c.881T>C (p.Val294Ala) rs766346414

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