ClinVar Miner

List of variants in gene RECQL4 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
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.2544C>T (p.Arg848=) rs200114521 0.00169
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe) rs188859497 0.00102
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
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.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
NM_004260.4(RECQL4):c.286C>A (p.Arg96=) rs375568877 0.00043
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.1779C>T (p.Ala593=) rs369939552 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 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.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004260.4(RECQL4):c.1899C>T (p.Gly633=) rs557065974 0.00014
NM_004260.4(RECQL4):c.2112C>T (p.Ile704=) rs368140492 0.00014
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln) rs542466006 0.00012
NM_004260.4(RECQL4):c.3162C>T (p.Phe1054=) rs373372297 0.00011
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1596C>T (p.Pro532=) rs767538015 0.00010
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu) rs550470182 0.00010
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.1647G>A (p.Lys549=) rs371972881 0.00008
NM_004260.4(RECQL4):c.2224G>A (p.Glu742Lys) rs377026680 0.00007
NM_004260.4(RECQL4):c.2154G>A (p.Ala718=) rs745813211 0.00006
NM_004260.4(RECQL4):c.2196T>A (p.Ser732=) rs373197205 0.00006
NM_004260.4(RECQL4):c.2200+5G>A rs770855894 0.00006
NM_004260.4(RECQL4):c.2235C>T (p.His745=) rs372501393 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 0.00006
NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=) rs769367312 0.00006
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp) rs768850000 0.00004
NM_004260.4(RECQL4):c.1109G>A (p.Arg370His) rs377494266 0.00004
NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser) rs557142414 0.00004
NM_004260.4(RECQL4):c.1617C>T (p.Asp539=) rs778916021 0.00004
NM_004260.4(RECQL4):c.1959A>G (p.Ala653=) rs574411332 0.00004
NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe) rs367559549 0.00004
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys) rs763846344 0.00004
NM_004260.4(RECQL4):c.3236+9G>A rs747467559 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_004260.4(RECQL4):c.634C>T (p.Leu212=) rs377012693 0.00004
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.2987T>C (p.Met996Thr) rs771326102 0.00003
NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221 0.00003
NM_004260.4(RECQL4):c.507A>G (p.Pro169=) rs755588645 0.00003
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp) rs775651175 0.00003
NM_004260.4(RECQL4):c.930C>G (p.Pro310=) rs751163976 0.00003
NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr) rs370432468 0.00002
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.3027G>A (p.Gln1009=) rs372660887 0.00002
NM_004260.4(RECQL4):c.3303G>A (p.Lys1101=) rs771528925 0.00002
NM_004260.4(RECQL4):c.3519G>A (p.Pro1173=) rs754019797 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004260.4(RECQL4):c.1384T>C (p.Leu462=) rs759459549 0.00001
NM_004260.4(RECQL4):c.1483+6C>T rs376137809 0.00001
NM_004260.4(RECQL4):c.1518C>T (p.Ala506=) rs757280460 0.00001
NM_004260.4(RECQL4):c.1784A>C (p.Gln595Pro) rs762566552 0.00001
NM_004260.4(RECQL4):c.2331G>A (p.Gly777=) rs1391751255 0.00001
NM_004260.4(RECQL4):c.2511G>A (p.Thr837=) rs772866964 0.00001
NM_004260.4(RECQL4):c.2631C>T (p.Tyr877=) rs762591075 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004260.4(RECQL4):c.2775C>T (p.Cys925=) rs376838923 0.00001
NM_004260.4(RECQL4):c.2811G>A (p.Leu937=) rs368178215 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.2902G>A (p.Val968Met) rs1060501382 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004260.4(RECQL4):c.3207T>C (p.Arg1069=) rs1060504218 0.00001
NM_004260.4(RECQL4):c.3236+4G>A rs575764344 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.357C>T (p.Ala119=) rs758460596 0.00001
NM_004260.4(RECQL4):c.490G>A (p.Glu164Lys) rs576735078 0.00001
NM_004260.4(RECQL4):c.*9C>G
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1228G>A (p.Asp410Asn) rs558779399
NM_004260.4(RECQL4):c.1336C>T (p.Leu446=)
NM_004260.4(RECQL4):c.1491C>T (p.Ser497=) rs369306389
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1635A>G (p.Pro545=) rs563366558
NM_004260.4(RECQL4):c.1705-8G>C rs2130697169
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2201-1G>A
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2272C>G (p.Arg758Gly) rs758790200
NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val) rs772573389
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2601C>T (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.2616G>A (p.Arg872=)
NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met) rs752058642
NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn) rs1827384465
NM_004260.4(RECQL4):c.3165C>A (p.Leu1055=) rs760532630
NM_004260.4(RECQL4):c.3249C>T (p.Pro1083=) rs886038539
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu) rs1827286027
NM_004260.4(RECQL4):c.3450G>A (p.Arg1150=) rs1554895831
NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg) rs779410033
NM_004260.4(RECQL4):c.3566A>G (p.His1189Arg)
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.665C>T (p.Pro222Leu) rs1452356265

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