ClinVar Miner

List of variants in gene CWC27 reported as uncertain significance for not provided

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Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_005869.4(CWC27):c.121A>G (p.Ile41Val) rs201232840 0.00025
NM_005869.4(CWC27):c.1240G>C (p.Glu414Gln) rs139204212 0.00025
NM_005869.4(CWC27):c.1042+5G>A rs373435795 0.00020
NM_005869.4(CWC27):c.884C>T (p.Ala295Val) rs149929520 0.00016
NM_005869.4(CWC27):c.1075G>A (p.Glu359Lys) rs140490454 0.00014
NM_005869.4(CWC27):c.100C>A (p.Pro34Thr) rs141974787 0.00013
NM_005869.4(CWC27):c.920A>T (p.Lys307Met) rs141017155 0.00012
NM_005869.4(CWC27):c.143A>G (p.Tyr48Cys) rs370593428 0.00010
NM_005869.4(CWC27):c.867A>T (p.Leu289Phe) rs140234898 0.00009
NM_005869.4(CWC27):c.973C>T (p.Arg325Trp) rs763896931 0.00008
NM_005869.4(CWC27):c.1236A>T (p.Glu412Asp) rs150642131 0.00007
NM_005869.4(CWC27):c.1412G>A (p.Arg471Lys) rs779259350 0.00007
NM_005869.4(CWC27):c.495+4G>C rs371394386 0.00007
NM_005869.4(CWC27):c.43G>A (p.Val15Ile) rs376182212 0.00006
NM_005869.4(CWC27):c.236A>G (p.Tyr79Cys) rs373067401 0.00005
NM_005869.4(CWC27):c.275G>A (p.Arg92His) rs568150813 0.00005
NM_005869.4(CWC27):c.238G>A (p.Gly80Arg) rs1377145480 0.00004
NM_005869.4(CWC27):c.304G>A (p.Ala102Thr) rs752677043 0.00004
NM_005869.4(CWC27):c.353G>T (p.Gly118Val) rs199984122 0.00004
NM_005869.4(CWC27):c.1004T>G (p.Val335Gly) rs199774142 0.00003
NM_005869.4(CWC27):c.1006G>A (p.Glu336Lys) rs371261961 0.00003
NM_005869.4(CWC27):c.196G>A (p.Gly66Arg) rs753398778 0.00003
NM_005869.4(CWC27):c.372C>G (p.Asn124Lys) rs762125859 0.00003
NM_005869.4(CWC27):c.396+5G>T rs764988150 0.00003
NM_005869.4(CWC27):c.974G>A (p.Arg325Gln) rs751408756 0.00003
NM_005869.4(CWC27):c.1066G>C (p.Ala356Pro) rs751813292 0.00002
NM_005869.4(CWC27):c.1142G>A (p.Arg381Gln) rs754601012 0.00002
NM_005869.4(CWC27):c.265T>C (p.Ser89Pro) rs138235746 0.00002
NM_005869.4(CWC27):c.274C>T (p.Arg92Cys) rs377331761 0.00002
NM_005869.4(CWC27):c.284G>A (p.Arg95Gln) rs370669132 0.00002
NM_005869.4(CWC27):c.326A>G (p.Asn109Ser) rs777723083 0.00002
NM_005869.4(CWC27):c.701A>T (p.Asp234Val) rs1158015032 0.00002
NM_005869.4(CWC27):c.721C>T (p.His241Tyr) rs774608229 0.00002
NM_005869.4(CWC27):c.1151A>G (p.Gln384Arg) rs1271477717 0.00001
NM_005869.4(CWC27):c.1208C>T (p.Thr403Met) rs769957094 0.00001
NM_005869.4(CWC27):c.1225C>A (p.Pro409Thr) rs774515994 0.00001
NM_005869.4(CWC27):c.151A>C (p.Asn51His) rs1368981497 0.00001
NM_005869.4(CWC27):c.175C>T (p.Pro59Ser) rs745426383 0.00001
NM_005869.4(CWC27):c.202C>T (p.Pro68Ser) rs532275928 0.00001
NM_005869.4(CWC27):c.235T>A (p.Tyr79Asn) rs776705210 0.00001
NM_005869.4(CWC27):c.250A>G (p.Lys84Glu) rs1444332691 0.00001
NM_005869.4(CWC27):c.449A>G (p.Asp150Gly) rs764172645 0.00001
NM_005869.4(CWC27):c.484A>G (p.Lys162Glu) rs1323531999 0.00001
NM_005869.4(CWC27):c.608G>A (p.Ser203Asn) rs757774900 0.00001
NM_005869.4(CWC27):c.661G>C (p.Val221Leu) rs1349372664 0.00001
NM_005869.4(CWC27):c.71T>C (p.Ile24Thr) rs781194080 0.00001
NM_005869.4(CWC27):c.733G>C (p.Val245Leu) rs147540109 0.00001
NM_005869.4(CWC27):c.796A>G (p.Ser266Gly) rs1318855120 0.00001
NM_005869.4(CWC27):c.797G>A (p.Ser266Asn) rs1744581925 0.00001
NM_005869.4(CWC27):c.841A>T (p.Met281Leu) rs915193174 0.00001
NM_005869.4(CWC27):c.845G>C (p.Arg282Thr) rs200712636 0.00001
GRCh37/hg19 5q12.3(chr5:64083092-64211005)x1
NC_000005.9:g.(?_64064974)_(64181393_?)dup
NC_000005.9:g.(?_64064974)_(64314148_?)dup
NM_005869.4(CWC27):c.1004T>C (p.Val335Ala) rs199774142
NM_005869.4(CWC27):c.100C>T (p.Pro34Ser) rs141974787
NM_005869.4(CWC27):c.1022A>G (p.Gln341Arg) rs1394338447
NM_005869.4(CWC27):c.1033A>G (p.Arg345Gly) rs952945840
NM_005869.4(CWC27):c.1034G>C (p.Arg345Thr)
NM_005869.4(CWC27):c.1042+4del rs2112343581
NM_005869.4(CWC27):c.1042G>A (p.Glu348Lys) rs775170127
NM_005869.4(CWC27):c.1081A>G (p.Arg361Gly)
NM_005869.4(CWC27):c.1116G>C (p.Lys372Asn)
NM_005869.4(CWC27):c.1141C>T (p.Arg381Trp)
NM_005869.4(CWC27):c.1152+5C>T
NM_005869.4(CWC27):c.1168A>G (p.Asn390Asp)
NM_005869.4(CWC27):c.1170C>G (p.Asn390Lys)
NM_005869.4(CWC27):c.1187T>G (p.Leu396Arg) rs2112446938
NM_005869.4(CWC27):c.1189A>G (p.Thr397Ala)
NM_005869.4(CWC27):c.1190_1193del (p.Thr397fs)
NM_005869.4(CWC27):c.121A>C (p.Ile41Leu) rs201232840
NM_005869.4(CWC27):c.1226C>T (p.Pro409Leu) rs2112446989
NM_005869.4(CWC27):c.1244A>T (p.Asp415Val)
NM_005869.4(CWC27):c.1257G>T (p.Trp419Cys)
NM_005869.4(CWC27):c.1259T>A (p.Met420Lys)
NM_005869.4(CWC27):c.1291A>G (p.Arg431Gly) rs1253121747
NM_005869.4(CWC27):c.1303G>C (p.Asp435His) rs2112479101
NM_005869.4(CWC27):c.1312A>G (p.Met438Val) rs1381774438
NM_005869.4(CWC27):c.1349G>A (p.Arg450Gln)
NM_005869.4(CWC27):c.1375G>A (p.Glu459Lys) rs190561984
NM_005869.4(CWC27):c.1376A>G (p.Glu459Gly) rs780017251
NM_005869.4(CWC27):c.139+3_139+4insAATTATGA rs762917044
NM_005869.4(CWC27):c.1395G>A (p.Met465Ile)
NM_005869.4(CWC27):c.1401G>C (p.Glu467Asp)
NM_005869.4(CWC27):c.1403A>G (p.Lys468Arg)
NM_005869.4(CWC27):c.1407_1411del (p.Glu470fs)
NM_005869.4(CWC27):c.1407del (p.Glu470fs)
NM_005869.4(CWC27):c.140C>A (p.Ala47Asp) rs368081814
NM_005869.4(CWC27):c.203C>T (p.Pro68Leu)
NM_005869.4(CWC27):c.212C>A (p.Thr71Lys) rs2112161150
NM_005869.4(CWC27):c.242C>T (p.Ala81Val)
NM_005869.4(CWC27):c.252+4del rs1200215248
NM_005869.4(CWC27):c.255T>A (p.Asp85Glu)
NM_005869.4(CWC27):c.268C>T (p.Arg90Trp)
NM_005869.4(CWC27):c.281A>C (p.Asn94Thr)
NM_005869.4(CWC27):c.289G>A (p.Gly97Arg)
NM_005869.4(CWC27):c.299C>T (p.Ala100Val) rs2112165858
NM_005869.4(CWC27):c.301A>G (p.Met101Val)
NM_005869.4(CWC27):c.328G>A (p.Gly110Ser) rs566171437
NM_005869.4(CWC27):c.355C>G (p.Arg119Gly) rs1186944777
NM_005869.4(CWC27):c.377A>G (p.Lys126Arg)
NM_005869.4(CWC27):c.396+6T>C
NM_005869.4(CWC27):c.413T>C (p.Val138Ala)
NM_005869.4(CWC27):c.449A>T (p.Asp150Val)
NM_005869.4(CWC27):c.461G>A (p.Arg154Lys)
NM_005869.4(CWC27):c.466C>T (p.His156Tyr)
NM_005869.4(CWC27):c.476A>T (p.His159Leu)
NM_005869.4(CWC27):c.479A>G (p.Lys160Arg)
NM_005869.4(CWC27):c.481A>G (p.Ile161Val)
NM_005869.4(CWC27):c.509C>T (p.Pro170Leu)
NM_005869.4(CWC27):c.517G>C (p.Asp173His) rs1245861359
NM_005869.4(CWC27):c.532G>A (p.Glu178Lys) rs1254062289
NM_005869.4(CWC27):c.53A>G (p.Lys18Arg) rs1743379298
NM_005869.4(CWC27):c.543G>C (p.Arg181Ser)
NM_005869.4(CWC27):c.543G>T (p.Arg181Ser)
NM_005869.4(CWC27):c.556A>G (p.Lys186Glu)
NM_005869.4(CWC27):c.56C>G (p.Thr19Ser)
NM_005869.4(CWC27):c.593G>T (p.Gly198Val) rs1265838133
NM_005869.4(CWC27):c.657T>A (p.Asn219Lys) rs1743982482
NM_005869.4(CWC27):c.660A>G (p.Arg220=) rs2112178501
NM_005869.4(CWC27):c.674T>C (p.Met225Thr) rs776523899
NM_005869.4(CWC27):c.706C>G (p.Leu236Val)
NM_005869.4(CWC27):c.716A>G (p.Asp239Gly) rs1744443819
NM_005869.4(CWC27):c.727A>G (p.Ser243Gly) rs1744444341
NM_005869.4(CWC27):c.755A>C (p.Lys252Thr)
NM_005869.4(CWC27):c.757G>A (p.Gly253Ser)
NM_005869.4(CWC27):c.763G>A (p.Ala255Thr)
NM_005869.4(CWC27):c.76A>C (p.Ile26Leu) rs2112143355
NM_005869.4(CWC27):c.780T>G (p.Asp260Glu) rs1744478053
NM_005869.4(CWC27):c.784G>A (p.Gly262Arg) rs748387936
NM_005869.4(CWC27):c.790G>A (p.Asp264Asn) rs773455166
NM_005869.4(CWC27):c.805C>T (p.His269Tyr)
NM_005869.4(CWC27):c.812A>C (p.Glu271Ala) rs2112214378
NM_005869.4(CWC27):c.842T>C (p.Met281Thr) rs2112214504
NM_005869.4(CWC27):c.843G>T (p.Met281Ile) rs201403830
NM_005869.4(CWC27):c.847G>A (p.Glu283Lys)
NM_005869.4(CWC27):c.872A>C (p.Lys291Thr)
NM_005869.4(CWC27):c.878C>T (p.Thr293Ile)
NM_005869.4(CWC27):c.890T>C (p.Val297Ala)
NM_005869.4(CWC27):c.892A>G (p.Lys298Glu) rs747909538
NM_005869.4(CWC27):c.908_910del (p.Gly303del) rs764283583
NM_005869.4(CWC27):c.918GAA[1] (p.Lys308del)
NM_005869.4(CWC27):c.926C>T (p.Ser309Leu) rs2112214898
NM_005869.4(CWC27):c.933C>G (p.Ser311Arg) rs2112214950
NM_005869.4(CWC27):c.935G>A (p.Arg312His)
NM_005869.4(CWC27):c.938+4A>T rs1417339130
NM_005869.4(CWC27):c.946C>T (p.Leu316Phe)
NM_005869.4(CWC27):c.988G>A (p.Ala330Thr) rs767839264
NM_005869.4(CWC27):c.995A>C (p.Gln332Pro) rs199655070

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