ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00063
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.1132-20C>T rs375444239 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004260.4(RECQL4):c.2473C>G (p.Leu825Val) rs371519199 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.1117C>T (p.Leu373Phe) rs370125881 0.00030
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405 0.00024
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.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.2503G>A (p.Asp835Asn) rs373187237 0.00016
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784 0.00014
NM_004260.4(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013 0.00014
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile) rs374225917 0.00013
NM_004260.4(RECQL4):c.2143C>T (p.Arg715Trp) rs373292946 0.00011
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr) rs373705170 0.00011
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004260.4(RECQL4):c.3119C>A (p.Pro1040Gln) rs370867731 0.00010
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00009
NM_004260.4(RECQL4):c.2538A>G (p.Val846=) rs746303718 0.00009
NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg) rs571635676 0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2743A>G (p.Met915Val) rs374898583 0.00007
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1207T>C (p.Cys403Arg) rs754788578 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2434G>A (p.Ala812Thr) rs372372052 0.00006
NM_004260.4(RECQL4):c.2485C>T (p.Arg829Cys) rs1470516114 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala) rs370912793 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2176G>A (p.Ala726Thr) rs766748490 0.00005
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln) rs750261857 0.00005
NM_004260.4(RECQL4):c.3544C>T (p.Arg1182Cys) rs376981214 0.00005
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp) rs768850000 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.2125C>T (p.Arg709Trp) rs199562131 0.00004
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys) rs763846344 0.00004
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp) rs758010588 0.00004
NM_004260.4(RECQL4):c.551G>A (p.Gly184Asp) rs369118443 0.00004
NM_004260.4(RECQL4):c.732A>C (p.Glu244Asp) rs750451940 0.00004
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.1939C>T (p.Arg647Cys) rs775127620 0.00003
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu) rs372664774 0.00003
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp) rs775651175 0.00003
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser) rs781105713 0.00003
NM_004260.4(RECQL4):c.1070A>G (p.Asn357Ser) rs771851520 0.00002
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His) rs398124115 0.00002
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1726G>A (p.Val576Met) rs570331496 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys) rs398124116 0.00002
NM_004260.4(RECQL4):c.2174A>T (p.His725Leu) rs755481980 0.00002
NM_004260.4(RECQL4):c.2207C>G (p.Ala736Gly) rs771790911 0.00002
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg) rs767102398 0.00002
NM_004260.4(RECQL4):c.2849C>G (p.Pro950Arg) rs769664095 0.00002
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn) rs780327528 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004260.4(RECQL4):c.1099C>T (p.Arg367Trp) rs531175632 0.00001
NM_004260.4(RECQL4):c.1128G>C (p.Lys376Asn) rs764389677 0.00001
NM_004260.4(RECQL4):c.1131+8A>G rs932213064 0.00001
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp) rs766026341 0.00001
NM_004260.4(RECQL4):c.1187C>T (p.Thr396Ile) rs752564961 0.00001
NM_004260.4(RECQL4):c.1538A>G (p.Gln513Arg) rs759124032 0.00001
NM_004260.4(RECQL4):c.1562G>A (p.Arg521Gln) rs747019774 0.00001
NM_004260.4(RECQL4):c.1579A>G (p.Thr527Ala) rs760080894 0.00001
NM_004260.4(RECQL4):c.1580C>G (p.Thr527Arg) rs766354337 0.00001
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val) rs1259051495 0.00001
NM_004260.4(RECQL4):c.1822C>T (p.His608Tyr) rs375033380 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1993C>T (p.His665Tyr) rs369674791 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2258G>A (p.Arg753Gln) rs540601452 0.00001
NM_004260.4(RECQL4):c.2388G>A (p.Glu796=) rs1378138545 0.00001
NM_004260.4(RECQL4):c.2563T>C (p.Cys855Arg) rs867982056 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.2976G>C (p.Leu992=) rs775795557 0.00001
NM_004260.4(RECQL4):c.3088T>G (p.Phe1030Val) rs759912361 0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=) rs748604051 0.00001
NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met) rs770138542 0.00001
NM_004260.4(RECQL4):c.493C>A (p.Pro165Thr) rs766897765 0.00001
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln) rs770777125 0.00001
NM_004260.4(RECQL4):c.545G>A (p.Arg182Gln) rs565903685 0.00001
NM_004260.4(RECQL4):c.743G>A (p.Arg248His) rs759352592 0.00001
NM_004260.4(RECQL4):c.1010C>A (p.Ala337Asp) rs1434732916
NM_004260.4(RECQL4):c.1078C>G (p.Gln360Glu) rs375236875
NM_004260.4(RECQL4):c.1246T>C (p.Cys416Arg)
NM_004260.4(RECQL4):c.1544C>T (p.Pro515Leu) rs1260540483
NM_004260.4(RECQL4):c.1573T>C (p.Cys525Arg) rs886043101
NM_004260.4(RECQL4):c.1670T>C (p.Met557Thr) rs1432340675
NM_004260.4(RECQL4):c.1676G>A (p.Arg559Lys) rs1324762406
NM_004260.4(RECQL4):c.1765G>A (p.Gly589Ser) rs1060501364
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=) rs369939552
NM_004260.4(RECQL4):c.1790C>T (p.Pro597Leu) rs1586810446
NM_004260.4(RECQL4):c.1922C>T (p.Thr641Ile) rs867428284
NM_004260.4(RECQL4):c.1924GCCACA[1] (p.642AT[1]) rs781471399
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
NM_004260.4(RECQL4):c.2040G>A (p.Met680Ile) rs1474548278
NM_004260.4(RECQL4):c.2044A>G (p.Arg682Gly) rs1455596790
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2189C>T (p.Pro730Leu) rs1554898674
NM_004260.4(RECQL4):c.2195C>T (p.Ser732Phe) rs1060501366
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2306T>C (p.Val769Ala) rs1827622405
NM_004260.4(RECQL4):c.2463+18C>A rs41542315
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.2505C>A (p.Asp835Glu)
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.4(RECQL4):c.2533C>T (p.Leu845=) rs762488692
NM_004260.4(RECQL4):c.2572A>G (p.Thr858Ala) rs1586799711
NM_004260.4(RECQL4):c.2740G>A (p.Asp914Asn) rs371327041
NM_004260.4(RECQL4):c.2832T>A (p.His944Gln) rs754047453
NM_004260.4(RECQL4):c.2876T>G (p.Leu959Arg) rs1554897159
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3085G>A (p.Glu1029Lys)
NM_004260.4(RECQL4):c.3128T>A (p.Leu1043Ter) rs398124118
NM_004260.4(RECQL4):c.3153A>G (p.Ile1051Met) rs2130659004
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3200_3205dup (p.Ala1068_Arg1069insLeuAla)
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)
NM_004260.4(RECQL4):c.3304G>A (p.Asp1102Asn) rs1422371025
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu) rs1827286027
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg) rs779410033
NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr) rs201809411
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.428C>G (p.Pro143Arg)
NM_004260.4(RECQL4):c.899G>A (p.Gly300Glu) rs369842607

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