ClinVar Miner

List of variants in gene KBTBD13 reported as likely benign for Nemaline myopathy 6

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001101362.3(KBTBD13):c.815T>A (p.Ile272Asn) rs558291810 0.00056
NM_001101362.3(KBTBD13):c.189G>A (p.Gln63=) rs777062916 0.00044
NM_001101362.3(KBTBD13):c.1264C>T (p.Arg422Trp) rs370691794 0.00032
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001101362.3(KBTBD13):c.880C>G (p.Pro294Ala) rs560695692 0.00023
NM_001101362.3(KBTBD13):c.1372C>T (p.Leu458=) rs959915743 0.00019
NM_001101362.3(KBTBD13):c.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362 0.00016
NM_001101362.3(KBTBD13):c.411G>A (p.Ala137=) rs944865368 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.393C>A (p.Asp131Glu) rs544721592 0.00013
NM_001101362.3(KBTBD13):c.58G>C (p.Ala20Pro) rs749605981 0.00013
NM_001101362.3(KBTBD13):c.882G>A (p.Pro294=) rs767222138 0.00013
NM_001101362.3(KBTBD13):c.1086C>T (p.Asp362=) rs367745880 0.00012
NM_001101362.3(KBTBD13):c.881C>T (p.Pro294Leu) rs754870477 0.00011
NM_001101362.3(KBTBD13):c.477C>G (p.Ala159=) rs1052175397 0.00010
NM_001101362.3(KBTBD13):c.1214C>T (p.Thr405Met) rs760429732 0.00009
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_001101362.3(KBTBD13):c.1038G>T (p.Met346Ile) rs770377239 0.00007
NM_001101362.3(KBTBD13):c.831C>G (p.Arg277=) rs781249514 0.00007
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=) rs543905658 0.00006
NM_001101362.3(KBTBD13):c.1061A>G (p.Tyr354Cys) rs778125325 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101362.3(KBTBD13):c.85T>C (p.Cys29Arg) rs1332816332 0.00005
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001101362.3(KBTBD13):c.243C>T (p.Ala81=) rs536164662 0.00004
NM_001101362.3(KBTBD13):c.261C>T (p.Phe87=) rs770172865 0.00004
NM_001101362.3(KBTBD13):c.276G>C (p.Ala92=) rs566529505 0.00004
NM_001101362.3(KBTBD13):c.609G>A (p.Gly203=) rs755363956 0.00004
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101362.3(KBTBD13):c.24G>A (p.Leu8=) rs753529968 0.00003
NM_001101362.3(KBTBD13):c.289C>T (p.Leu97=) rs970032872 0.00003
NM_001101362.3(KBTBD13):c.558G>C (p.Ala186=) rs775940623 0.00003
NM_001101362.3(KBTBD13):c.75G>C (p.Leu25=) rs1189278227 0.00003
NM_001101362.3(KBTBD13):c.768C>T (p.Phe256=) rs758252719 0.00003
NM_001101362.3(KBTBD13):c.810G>C (p.Thr270=) rs912566376 0.00003
NM_001101362.3(KBTBD13):c.861C>T (p.Phe287=) rs777259450 0.00003
NM_001101362.3(KBTBD13):c.888C>T (p.Ala296=) rs529828976 0.00003
NM_001101362.3(KBTBD13):c.900C>T (p.Cys300=) rs778682102 0.00003
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.937C>T (p.Arg313Trp) rs1177976401 0.00003
NM_001101362.3(KBTBD13):c.1028_1032del (p.Gly343fs) rs774779148 0.00002
NM_001101362.3(KBTBD13):c.1185G>C (p.Thr395=) rs747137052 0.00002
NM_001101362.3(KBTBD13):c.1218C>T (p.Val406=) rs774247348 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001101362.3(KBTBD13):c.375C>G (p.Ala125=) rs540939027 0.00002
NM_001101362.3(KBTBD13):c.375C>T (p.Ala125=) rs540939027 0.00002
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001101362.3(KBTBD13):c.1051G>T (p.Asp351Tyr) rs539760679 0.00001
NM_001101362.3(KBTBD13):c.1126A>C (p.Thr376Pro) rs1048233904 0.00001
NM_001101362.3(KBTBD13):c.1242C>T (p.Tyr414=) rs186889885 0.00001
NM_001101362.3(KBTBD13):c.132C>T (p.Arg44=) rs1379997853 0.00001
NM_001101362.3(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117 0.00001
NM_001101362.3(KBTBD13):c.1362A>C (p.Thr454=) rs548640037 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.210G>A (p.Pro70=) rs751494294 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.285C>T (p.Arg95=) rs1175552889 0.00001
NM_001101362.3(KBTBD13):c.291G>A (p.Leu97=) rs914591905 0.00001
NM_001101362.3(KBTBD13):c.309G>A (p.Ser103=) rs760134475 0.00001
NM_001101362.3(KBTBD13):c.348C>T (p.Phe116=) rs1222501717 0.00001
NM_001101362.3(KBTBD13):c.376G>A (p.Ala126Thr) rs1424500883 0.00001
NM_001101362.3(KBTBD13):c.485C>T (p.Thr162Met) rs1269389678 0.00001
NM_001101362.3(KBTBD13):c.523C>T (p.Arg175Cys) rs1257424632 0.00001
NM_001101362.3(KBTBD13):c.576G>C (p.Ala192=) rs1490959556 0.00001
NM_001101362.3(KBTBD13):c.601C>T (p.Leu201=) rs1364669643 0.00001
NM_001101362.3(KBTBD13):c.606C>T (p.Ala202=) rs752006739 0.00001
NM_001101362.3(KBTBD13):c.666G>C (p.Lys222Asn) rs745699550 0.00001
NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=) rs750627612 0.00001
NM_001101362.3(KBTBD13):c.834C>T (p.Tyr278=) rs769789834 0.00001
NM_001101362.3(KBTBD13):c.867C>G (p.Ala289=) rs1057524136 0.00001
NM_001101362.3(KBTBD13):c.892G>A (p.Val298Met) rs1002641714 0.00001
NM_001101362.3(KBTBD13):c.984C>T (p.Asp328=) rs1477394894 0.00001
NM_001101362.3(KBTBD13):c.1002C>G (p.Ala334=)
NM_001101362.3(KBTBD13):c.1002C>T (p.Ala334=)
NM_001101362.3(KBTBD13):c.1029C>T (p.Gly343=) rs940307766
NM_001101362.3(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.3(KBTBD13):c.1047C>T (p.His349=)
NM_001101362.3(KBTBD13):c.1050C>T (p.Arg350=)
NM_001101362.3(KBTBD13):c.1070G>T (p.Arg357Leu) rs1456044134
NM_001101362.3(KBTBD13):c.1080T>A (p.Pro360=)
NM_001101362.3(KBTBD13):c.1083C>G (p.Ser361=) rs760978865
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.1122G>A (p.Leu374=)
NM_001101362.3(KBTBD13):c.114C>T (p.Ser38=) rs771263021
NM_001101362.3(KBTBD13):c.1163A>G (p.Asn388Ser) rs2087004754
NM_001101362.3(KBTBD13):c.1205_1206insGCACTATAC (p.Thr402_Val403insHisTyrThr) rs2087006011
NM_001101362.3(KBTBD13):c.1206C>A (p.Thr402=)
NM_001101362.3(KBTBD13):c.1206C>G (p.Thr402=) rs2087006106
NM_001101362.3(KBTBD13):c.1206C>T (p.Thr402=) rs2087006106
NM_001101362.3(KBTBD13):c.121C>A (p.Arg41=)
NM_001101362.3(KBTBD13):c.1233G>A (p.Thr411=)
NM_001101362.3(KBTBD13):c.1241A>G (p.Tyr414Cys) rs2140545943
NM_001101362.3(KBTBD13):c.1260C>T (p.Thr420=) rs1177062291
NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=)
NM_001101362.3(KBTBD13):c.1294C>A (p.Arg432=) rs1376646798
NM_001101362.3(KBTBD13):c.1299C>T (p.Pro433=)
NM_001101362.3(KBTBD13):c.1323A>C (p.Leu441=) rs2140546127
NM_001101362.3(KBTBD13):c.1365G>C (p.Thr455=)
NM_001101362.3(KBTBD13):c.138A>C (p.Ala46=)
NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=)
NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu)
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.165G>A (p.Ala55=)
NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=) rs779148387
NM_001101362.3(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.3(KBTBD13):c.185T>C (p.Leu62Pro) rs907742667
NM_001101362.3(KBTBD13):c.198C>A (p.Arg66=) rs1265388791
NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg) rs770087291
NM_001101362.3(KBTBD13):c.219G>A (p.Ala73=) rs868363260
NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=)
NM_001101362.3(KBTBD13):c.225G>A (p.Glu75=)
NM_001101362.3(KBTBD13):c.277C>T (p.Leu93=) rs1176522700
NM_001101362.3(KBTBD13):c.284G>C (p.Arg95Pro) rs1160768354
NM_001101362.3(KBTBD13):c.288T>C (p.Phe96=) rs759474251
NM_001101362.3(KBTBD13):c.308C>T (p.Ser103Leu) rs1235549563
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.315C>T (p.Asn105=)
NM_001101362.3(KBTBD13):c.318C>T (p.Cys106=) rs1217296620
NM_001101362.3(KBTBD13):c.325C>T (p.Leu109=) rs2086983618
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.333C>T (p.Asp111=) rs188146580
NM_001101362.3(KBTBD13):c.336G>A (p.Ala112=) rs995813983
NM_001101362.3(KBTBD13):c.336G>C (p.Ala112=)
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.342C>G (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.357C>G (p.Arg119=)
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.361G>C (p.Val121Leu) rs201466173
NM_001101362.3(KBTBD13):c.363G>A (p.Val121=) rs2140543822
NM_001101362.3(KBTBD13):c.369C>T (p.His123=)
NM_001101362.3(KBTBD13):c.378_379delinsTG (p.Leu127Val)
NM_001101362.3(KBTBD13):c.391G>A (p.Asp131Asn) rs1244704984
NM_001101362.3(KBTBD13):c.393C>T (p.Asp131=) rs544721592
NM_001101362.3(KBTBD13):c.402C>G (p.Arg134=)
NM_001101362.3(KBTBD13):c.418C>T (p.Leu140=) rs2140544006
NM_001101362.3(KBTBD13):c.429T>C (p.Pro143=) rs1057522825
NM_001101362.3(KBTBD13):c.435C>G (p.Ala145=) rs2140544064
NM_001101362.3(KBTBD13):c.456_457delinsAA (p.Leu152_Arg153=)
NM_001101362.3(KBTBD13):c.474G>A (p.Ala158=)
NM_001101362.3(KBTBD13):c.474G>C (p.Ala158=)
NM_001101362.3(KBTBD13):c.477C>A (p.Ala159=) rs1052175397
NM_001101362.3(KBTBD13):c.495C>G (p.Pro165=)
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.519C>T (p.Ala173=)
NM_001101362.3(KBTBD13):c.537C>T (p.Tyr179=)
NM_001101362.3(KBTBD13):c.53T>G (p.Phe18Cys) rs949994452
NM_001101362.3(KBTBD13):c.549A>G (p.Glu183=)
NM_001101362.3(KBTBD13):c.566C>T (p.Thr189Met) rs2086990476
NM_001101362.3(KBTBD13):c.579G>A (p.Leu193=)
NM_001101362.3(KBTBD13):c.582C>T (p.Pro194=) rs1184536215
NM_001101362.3(KBTBD13):c.597G>A (p.Thr199=)
NM_001101362.3(KBTBD13):c.615C>T (p.Ala205=) rs1243976277
NM_001101362.3(KBTBD13):c.62A>C (p.Asp21Ala)
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.642G>C (p.Val214=)
NM_001101362.3(KBTBD13):c.654C>T (p.Arg218=)
NM_001101362.3(KBTBD13):c.657C>A (p.Gly219=) rs1337483952
NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=) rs2086976441
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245
NM_001101362.3(KBTBD13):c.756G>T (p.Ala252=) rs1431328866
NM_001101362.3(KBTBD13):c.756_757delinsAA (p.Leu253Met) rs2086994718
NM_001101362.3(KBTBD13):c.783C>T (p.Tyr261=)
NM_001101362.3(KBTBD13):c.792C>T (p.Gly264=)
NM_001101362.3(KBTBD13):c.830G>A (p.Arg277His) rs1233365626
NM_001101362.3(KBTBD13):c.867C>T (p.Ala289=)
NM_001101362.3(KBTBD13):c.888C>G (p.Ala296=) rs529828976
NM_001101362.3(KBTBD13):c.90C>G (p.Gly30=) rs2140543051
NM_001101362.3(KBTBD13):c.90C>T (p.Gly30=) rs2140543051
NM_001101362.3(KBTBD13):c.921C>A (p.Leu307=) rs773691737
NM_001101362.3(KBTBD13):c.931C>T (p.Leu311=)
NM_001101362.3(KBTBD13):c.954C>T (p.Thr318=) rs368781046
NM_001101362.3(KBTBD13):c.957del (p.Val320fs)
NM_001101362.3(KBTBD13):c.972A>G (p.Ala324=)
NM_001101362.3(KBTBD13):c.987G>A (p.Ala329=)
NM_001101362.3(KBTBD13):c.98G>C (p.Arg33Pro) rs200548009

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