ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance for Rothmund-Thomson syndrome type 2

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
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.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
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.2953G>A (p.Val985Met) rs200629599 0.00024
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.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys) rs202134651 0.00011
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00009
NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) rs200382712 0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409 0.00006
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467 0.00006
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072 0.00004
NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro) rs774274636 0.00004
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660 0.00004
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) rs765087683 0.00004
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) rs746487281 0.00003
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374 0.00002
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.2463+3T>C rs538535710 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) rs753361853 0.00002
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) rs776532961 0.00002
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) rs892796827 0.00002
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398 0.00001
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys) rs1370043767 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) rs780200030 0.00001
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) rs1416975304 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) rs368160871 0.00001
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu) rs773579080 0.00001
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) rs745571670 0.00001
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) rs767337200
NM_004260.4(RECQL4):c.1483+27_1483+37del
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) rs531970883
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) rs748416710
NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp) rs1586802958
NM_004260.4(RECQL4):c.2414_2422del (p.Ala805_Arg807del)
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) rs1423500226
NM_004260.4(RECQL4):c.2463+5G>A rs1264630646
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) rs200629599
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3084G>A (p.Val1028=) rs1827393391
NM_004260.4(RECQL4):c.312C>G (p.Asp104Glu)
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.4(RECQL4):c.3338G>C (p.Gly1113Ala)
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) rs1564787405
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) rs565903685

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