ClinVar Miner

List of variants in gene RBCK1 reported as likely benign for Polyglucosan body myopathy type 1

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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_031229.4(RBCK1):c.1030-4G>A rs149038161 0.00056
NM_031229.4(RBCK1):c.654G>A (p.Arg218=) rs149541936 0.00049
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser) rs377605009 0.00047
NM_031229.4(RBCK1):c.918-11C>T rs369471646 0.00044
NM_031229.4(RBCK1):c.246G>A (p.Ala82=) rs148091459 0.00036
NM_031229.4(RBCK1):c.461-4A>G rs371854549 0.00019
NM_031229.4(RBCK1):c.531C>T (p.Val177=) rs375018967 0.00019
NM_031229.4(RBCK1):c.204C>T (p.Thr68=) rs189407509 0.00015
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg) rs763971799 0.00010
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=) rs750877383 0.00006
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=) rs766366513 0.00006
NM_031229.4(RBCK1):c.1308+19C>T rs554956050 0.00005
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=) rs746385953 0.00004
NM_031229.4(RBCK1):c.1374C>T (p.Asp458=) rs780494996 0.00004
NM_031229.4(RBCK1):c.1428C>T (p.Thr476=) rs375635112 0.00004
NM_031229.4(RBCK1):c.513C>G (p.Gly171=) rs777854248 0.00004
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu) rs748386516 0.00004
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=) rs377305490 0.00003
NM_031229.4(RBCK1):c.63C>T (p.Gly21=) rs749576109 0.00003
NM_031229.4(RBCK1):c.855C>T (p.Cys285=) rs776856644 0.00003
NM_031229.4(RBCK1):c.861G>A (p.Ser287=) rs1053428615 0.00003
NM_031229.4(RBCK1):c.917+9C>T rs752577528 0.00003
NM_031229.4(RBCK1):c.1398C>T (p.Thr466=) rs532857178 0.00002
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=) rs749891698 0.00002
NM_031229.4(RBCK1):c.180C>T (p.Ser60=) rs757115540 0.00002
NM_031229.4(RBCK1):c.576C>T (p.Pro192=) rs976327623 0.00002
NM_031229.4(RBCK1):c.663C>G (p.Pro221=) rs750427179 0.00002
NM_031229.4(RBCK1):c.757-10G>T rs1472775469 0.00002
NM_031229.4(RBCK1):c.757-16C>A rs1203285203 0.00002
NM_031229.4(RBCK1):c.917+15C>T rs963667842 0.00002
NM_031229.4(RBCK1):c.993G>A (p.Ser331=) rs750664557 0.00002
NM_031229.4(RBCK1):c.1030-11T>C rs1347263782 0.00001
NM_031229.4(RBCK1):c.1068G>T (p.Leu356=) rs1244813118 0.00001
NM_031229.4(RBCK1):c.1209+17C>T rs2016795068 0.00001
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=) rs370138905 0.00001
NM_031229.4(RBCK1):c.1309-18G>C rs1031466010 0.00001
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=) rs1437187965 0.00001
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=) rs762116740 0.00001
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=) rs369912362 0.00001
NM_031229.4(RBCK1):c.1452+14C>T rs1465505607 0.00001
NM_031229.4(RBCK1):c.1452+15G>A rs569310074 0.00001
NM_031229.4(RBCK1):c.171G>A (p.Leu57=) rs539510245 0.00001
NM_031229.4(RBCK1):c.333G>A (p.Gln111=) rs758405216 0.00001
NM_031229.4(RBCK1):c.477C>T (p.Asp159=) rs1301599917 0.00001
NM_031229.4(RBCK1):c.603G>A (p.Gly201=) rs1206906907 0.00001
NM_031229.4(RBCK1):c.609C>T (p.Thr203=) rs2016242054 0.00001
NM_031229.4(RBCK1):c.757-6G>T rs1391498500 0.00001
NM_031229.4(RBCK1):c.876C>T (p.Gly292=) rs767353266 0.00001
NM_031229.4(RBCK1):c.906C>T (p.His302=) rs1273262609 0.00001
NM_031229.4(RBCK1):c.917+19C>T rs1473845806 0.00001
NM_031229.4(RBCK1):c.987C>G (p.Thr329=) rs778332884 0.00001
NM_031229.4(RBCK1):c.1006C>T (p.Leu336=) rs2122282595
NM_031229.4(RBCK1):c.1009C>T (p.Leu337=) rs2122282623
NM_031229.4(RBCK1):c.100C>T (p.Leu34=) rs1440300058
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=) rs2122282701
NM_031229.4(RBCK1):c.1029+7C>T rs2122282889
NM_031229.4(RBCK1):c.1029+8C>T
NM_031229.4(RBCK1):c.1030-12G>A
NM_031229.4(RBCK1):c.1030-16C>T
NM_031229.4(RBCK1):c.1044G>A (p.Glu348=) rs2122324309
NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)
NM_031229.4(RBCK1):c.1068G>C (p.Leu356=)
NM_031229.4(RBCK1):c.1119C>A (p.Thr373=)
NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)
NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)
NM_031229.4(RBCK1):c.1176T>C (p.Pro392=)
NM_031229.4(RBCK1):c.1188C>T (p.His396=) rs766618284
NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)
NM_031229.4(RBCK1):c.1209+11C>G
NM_031229.4(RBCK1):c.1209+8C>T
NM_031229.4(RBCK1):c.1210-19A>G
NM_031229.4(RBCK1):c.1210-7G>A
NM_031229.4(RBCK1):c.1210-8C>T
NM_031229.4(RBCK1):c.1221G>A (p.Glu407=) rs2122333198
NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)
NM_031229.4(RBCK1):c.12G>A (p.Lys4=)
NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)
NM_031229.4(RBCK1):c.1308+12A>G
NM_031229.4(RBCK1):c.1308+13C>T
NM_031229.4(RBCK1):c.1308+7C>T rs2122334650
NM_031229.4(RBCK1):c.1309-14C>G
NM_031229.4(RBCK1):c.132A>G (p.Gln44=) rs145132343
NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=) rs756825937
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=) rs2122338340
NM_031229.4(RBCK1):c.1383C>T (p.Asp461=)
NM_031229.4(RBCK1):c.1410C>A (p.Thr470=)
NM_031229.4(RBCK1):c.141T>C (p.Pro47=)
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=) rs2122338869
NM_031229.4(RBCK1):c.1434C>T (p.Gly478=) rs767016233
NM_031229.4(RBCK1):c.1452+15G>T
NM_031229.4(RBCK1):c.1473G>C (p.Gly491=)
NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=) rs2122349257
NM_031229.4(RBCK1):c.1530C>T (p.His510=) rs1002077278
NM_031229.4(RBCK1):c.156G>A (p.Thr52=)
NM_031229.4(RBCK1):c.167+10G>A
NM_031229.4(RBCK1):c.167+9T>C
NM_031229.4(RBCK1):c.168-14G>C
NM_031229.4(RBCK1):c.168-20G>A
NM_031229.4(RBCK1):c.169C>T (p.Leu57=)
NM_031229.4(RBCK1):c.186G>A (p.Glu62=)
NM_031229.4(RBCK1):c.22+11G>A
NM_031229.4(RBCK1):c.22+17G>C
NM_031229.4(RBCK1):c.222A>T (p.Thr74=)
NM_031229.4(RBCK1):c.228C>G (p.Arg76=) rs2122225668
NM_031229.4(RBCK1):c.240A>G (p.Thr80=)
NM_031229.4(RBCK1):c.261+14C>T
NM_031229.4(RBCK1):c.261+15G>A rs11698154
NM_031229.4(RBCK1):c.261+20G>A
NM_031229.4(RBCK1):c.262-17C>G
NM_031229.4(RBCK1):c.262-6C>A
NM_031229.4(RBCK1):c.330C>T (p.Asp110=)
NM_031229.4(RBCK1):c.348C>G (p.Ser116=)
NM_031229.4(RBCK1):c.354G>A (p.Gly118=) rs560528051
NM_031229.4(RBCK1):c.366T>C (p.Asn122=) rs2122227710
NM_031229.4(RBCK1):c.372C>T (p.Asp124=)
NM_031229.4(RBCK1):c.441G>A (p.Arg147=)
NM_031229.4(RBCK1):c.447G>A (p.Leu149=)
NM_031229.4(RBCK1):c.450G>T (p.Arg150=) rs2016096112
NM_031229.4(RBCK1):c.456G>A (p.Leu152=)
NM_031229.4(RBCK1):c.460+12C>T
NM_031229.4(RBCK1):c.460+13C>T
NM_031229.4(RBCK1):c.460+14_460+47del rs2122228766
NM_031229.4(RBCK1):c.460+15T>C
NM_031229.4(RBCK1):c.461-12C>G
NM_031229.4(RBCK1):c.461-8C>A
NM_031229.4(RBCK1):c.462T>C (p.Asp154=)
NM_031229.4(RBCK1):c.483G>A (p.Thr161=)
NM_031229.4(RBCK1):c.492G>A (p.Pro164=) rs765582031
NM_031229.4(RBCK1):c.492G>T (p.Pro164=)
NM_031229.4(RBCK1):c.513C>T (p.Gly171=) rs777854248
NM_031229.4(RBCK1):c.516C>T (p.Pro172=)
NM_031229.4(RBCK1):c.525C>T (p.Pro175=)
NM_031229.4(RBCK1):c.528G>T (p.Gly176=)
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
NM_031229.4(RBCK1):c.531C>G (p.Val177=) rs375018967
NM_031229.4(RBCK1):c.543C>T (p.Pro181=) rs377036635
NM_031229.4(RBCK1):c.549G>C (p.Arg183=) rs1029755805
NM_031229.4(RBCK1):c.549G>T (p.Arg183=) rs1029755805
NM_031229.4(RBCK1):c.570T>G (p.Pro190=)
NM_031229.4(RBCK1):c.582+17C>T
NM_031229.4(RBCK1):c.582+9_582+15dup
NM_031229.4(RBCK1):c.594G>A (p.Gln198=)
NM_031229.4(RBCK1):c.600C>T (p.Pro200=) rs561932073
NM_031229.4(RBCK1):c.606C>T (p.Cys202=)
NM_031229.4(RBCK1):c.621G>A (p.Lys207=) rs1394794776
NM_031229.4(RBCK1):c.627G>A (p.Thr209=)
NM_031229.4(RBCK1):c.633T>C (p.Pro211=)
NM_031229.4(RBCK1):c.657G>A (p.Ala219=)
NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)
NM_031229.4(RBCK1):c.687A>G (p.Ser229=) rs2122245613
NM_031229.4(RBCK1):c.696C>A (p.Pro232=)
NM_031229.4(RBCK1):c.696C>G (p.Pro232=) rs549369680
NM_031229.4(RBCK1):c.709C>A (p.Arg237=)
NM_031229.4(RBCK1):c.714G>A (p.Ala238=)
NM_031229.4(RBCK1):c.714G>T (p.Ala238=)
NM_031229.4(RBCK1):c.717C>T (p.Arg239=)
NM_031229.4(RBCK1):c.720G>A (p.Leu240=)
NM_031229.4(RBCK1):c.723G>A (p.Ala241=) rs762123098
NM_031229.4(RBCK1):c.744T>A (p.Arg248=)
NM_031229.4(RBCK1):c.756+10A>G
NM_031229.4(RBCK1):c.757-11C>T
NM_031229.4(RBCK1):c.757-13C>T
NM_031229.4(RBCK1):c.757-16C>T
NM_031229.4(RBCK1):c.757-20G>A
NM_031229.4(RBCK1):c.757-20_757-8del rs746640446
NM_031229.4(RBCK1):c.757-4C>T
NM_031229.4(RBCK1):c.757-7T>C
NM_031229.4(RBCK1):c.831G>A (p.Thr277=)
NM_031229.4(RBCK1):c.837C>T (p.Pro279=) rs1433038293
NM_031229.4(RBCK1):c.840C>T (p.Ala280=)
NM_031229.4(RBCK1):c.867G>A (p.Leu289=)
NM_031229.4(RBCK1):c.873C>A (p.Pro291=)
NM_031229.4(RBCK1):c.882C>A (p.Ala294=)
NM_031229.4(RBCK1):c.891G>A (p.Leu297=)
NM_031229.4(RBCK1):c.900T>C (p.Cys300=)
NM_031229.4(RBCK1):c.903G>T (p.Leu301=) rs1228337215
NM_031229.4(RBCK1):c.909C>T (p.Thr303=)
NM_031229.4(RBCK1):c.917+12A>G
NM_031229.4(RBCK1):c.917+17C>T
NM_031229.4(RBCK1):c.917+19C>A
NM_031229.4(RBCK1):c.917+19C>G
NM_031229.4(RBCK1):c.918-14C>T
NM_031229.4(RBCK1):c.918-16C>G
NM_031229.4(RBCK1):c.918-18T>G
NM_031229.4(RBCK1):c.918-19_918-18del rs1440664609
NM_031229.4(RBCK1):c.918-7C>G
NM_031229.4(RBCK1):c.927G>A (p.Leu309=)
NM_031229.4(RBCK1):c.933C>T (p.Gly311=) rs2016473810
NM_031229.4(RBCK1):c.936C>T (p.Thr312=)
NM_031229.4(RBCK1):c.942C>T (p.Arg314=)
NM_031229.4(RBCK1):c.948C>T (p.Ser316=)
NM_031229.4(RBCK1):c.981C>T (p.Asp327=) rs2122282048
NM_031229.4(RBCK1):c.993G>T (p.Ser331=) rs750664557
NM_031229.4(RBCK1):c.996C>T (p.Cys332=)
NM_031229.4(RBCK1):c.999G>A (p.Ser333=) rs146181107

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