ClinVar Miner

List of variants in gene POMK studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326 0.01548
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483 0.00759
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435 0.00136
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111 0.00116
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761 0.00111
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240 0.00099
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574 0.00080
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259 0.00044
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766 0.00028
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957 0.00020
NM_032237.5(POMK):c.44G>A (p.Arg15Gln) rs377725187 0.00019
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063 0.00017
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200 0.00016
NM_032237.5(POMK):c.282+20C>T rs181979471 0.00011
NM_032237.5(POMK):c.54G>A (p.Pro18=) rs201226142 0.00011
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00011
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146 0.00010
NM_032237.5(POMK):c.33C>G (p.Gly11=) rs967238740 0.00009
NM_032237.5(POMK):c.732C>T (p.Cys244=) rs142479040 0.00009
NM_032237.5(POMK):c.222C>T (p.Cys74=) rs147680806 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253 0.00008
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960 0.00007
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070 0.00007
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719 0.00006
NM_032237.5(POMK):c.701T>C (p.Val234Ala) rs185390123 0.00006
NM_032237.5(POMK):c.726G>A (p.Val242=) rs779226611 0.00006
NM_032237.5(POMK):c.978C>T (p.Asp326=) rs377648307 0.00006
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032237.5(POMK):c.968C>T (p.Thr323Ile) rs1029874324 0.00005
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747 0.00004
NM_032237.5(POMK):c.236C>G (p.Thr79Arg) rs773908820 0.00004
NM_032237.5(POMK):c.363T>C (p.His121=) rs374766465 0.00004
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386 0.00004
NM_032237.5(POMK):c.796G>A (p.Val266Met) rs543448796 0.00004
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714 0.00003
NM_032237.5(POMK):c.129C>T (p.Ile43=) rs761324803 0.00003
NM_032237.5(POMK):c.715G>A (p.Gly239Arg) rs35104071 0.00003
NM_032237.5(POMK):c.774A>G (p.Gln258=) rs759091832 0.00003
NM_032237.5(POMK):c.170A>G (p.Tyr57Cys) rs372826172 0.00002
NM_032237.5(POMK):c.457C>T (p.Pro153Ser) rs140899970 0.00002
NM_032237.5(POMK):c.55C>T (p.Pro19Ser) rs754284268 0.00002
NM_032237.5(POMK):c.66G>T (p.Gly22=) rs778266586 0.00002
NM_032237.5(POMK):c.681C>T (p.Asp227=) rs765987803 0.00002
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294 0.00002
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006 0.00002
NM_032237.5(POMK):c.807C>T (p.His269=) rs754174652 0.00002
NM_032237.5(POMK):c.82G>T (p.Ala28Ser) rs201506618 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032237.5(POMK):c.908G>A (p.Arg303Gln) rs370946940 0.00002
NM_032237.5(POMK):c.1023C>T (p.Ala341=) rs777058315 0.00001
NM_032237.5(POMK):c.10C>T (p.Gln4Ter) rs202006335 0.00001
NM_032237.5(POMK):c.111C>T (p.Cys37=) rs774288809 0.00001
NM_032237.5(POMK):c.115G>A (p.Asp39Asn) rs775170725 0.00001
NM_032237.5(POMK):c.127A>G (p.Ile43Val) rs1470311222 0.00001
NM_032237.5(POMK):c.168C>G (p.Pro56=) rs1392752976 0.00001
NM_032237.5(POMK):c.183G>A (p.Arg61=) rs778749095 0.00001
NM_032237.5(POMK):c.1A>G (p.Met1Val) rs1432594936 0.00001
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552 0.00001
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547 0.00001
NM_032237.5(POMK):c.282+7C>A rs747811554 0.00001
NM_032237.5(POMK):c.282+8C>T rs376305406 0.00001
NM_032237.5(POMK):c.282+9G>A rs779331401 0.00001
NM_032237.5(POMK):c.324A>C (p.Ser108=) rs764321374 0.00001
NM_032237.5(POMK):c.326A>G (p.Gln109Arg) rs766606876 0.00001
NM_032237.5(POMK):c.334A>G (p.Ser112Gly) rs765276659 0.00001
NM_032237.5(POMK):c.3G>C (p.Met1Ile) rs757689822 0.00001
NM_032237.5(POMK):c.408G>A (p.Thr136=) rs372221328 0.00001
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385 0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter) rs774013796 0.00001
NM_032237.5(POMK):c.45A>G (p.Arg15=) rs1387597417 0.00001
NM_032237.5(POMK):c.46G>A (p.Glu16Lys) rs760216520 0.00001
NM_032237.5(POMK):c.49G>T (p.Val17Leu) rs1811486866 0.00001
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333 0.00001
NM_032237.5(POMK):c.51G>T (p.Val17=) rs140164489 0.00001
NM_032237.5(POMK):c.580C>T (p.His194Tyr) rs565775459 0.00001
NM_032237.5(POMK):c.588T>C (p.Pro196=) rs766337800 0.00001
NM_032237.5(POMK):c.591G>A (p.Val197=) rs534295348 0.00001
NM_032237.5(POMK):c.619G>A (p.Asp207Asn) rs748538450 0.00001
NM_032237.5(POMK):c.620A>G (p.Asp207Gly) rs770018377 0.00001
NM_032237.5(POMK):c.627G>A (p.Pro209=) rs771102494 0.00001
NM_032237.5(POMK):c.633A>C (p.Thr211=) rs1011002628 0.00001
NM_032237.5(POMK):c.663C>A (p.Phe221Leu) rs145931566 0.00001
NM_032237.5(POMK):c.688G>A (p.Ala230Thr) rs1018638122 0.00001
NM_032237.5(POMK):c.808G>A (p.Asp270Asn) rs1295331795 0.00001
NM_032237.5(POMK):c.833A>G (p.Glu278Gly) rs757600130 0.00001
NM_032237.5(POMK):c.906C>T (p.Val302=) rs1276870660 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032237.5(POMK):c.926T>C (p.Ile309Thr) rs750736847 0.00001
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42958983_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.11:g.(?_43103539)_(43103840_?)del
NM_032237.5(POMK):c.1011A>G (p.Thr337=)
NM_032237.5(POMK):c.1044G>T (p.Glu348Asp) rs1426912299
NM_032237.5(POMK):c.110G>C (p.Cys37Ser) rs149845778
NM_032237.5(POMK):c.121T>G (p.Phe41Val) rs1811490118
NM_032237.5(POMK):c.137G>A (p.Arg46Gln)
NM_032237.5(POMK):c.150G>C (p.Val50=) rs2130601396
NM_032237.5(POMK):c.152del (p.Asp51fs) rs2130601407
NM_032237.5(POMK):c.154C>T (p.Pro52Ser)
NM_032237.5(POMK):c.157A>G (p.Thr53Ala)
NM_032237.5(POMK):c.174T>G (p.Gly58=)
NM_032237.5(POMK):c.181A>G (p.Arg61Gly) rs201953159
NM_032237.5(POMK):c.183G>C (p.Arg61Ser) rs778749095
NM_032237.5(POMK):c.197A>G (p.Lys66Arg)
NM_032237.5(POMK):c.208C>T (p.Pro70Ser)
NM_032237.5(POMK):c.215T>C (p.Leu72Pro) rs1811493094
NM_032237.5(POMK):c.222C>G (p.Cys74Trp)
NM_032237.5(POMK):c.223G>A (p.Glu75Lys)
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
NM_032237.5(POMK):c.24C>T (p.Ser8=)
NM_032237.5(POMK):c.257G>A (p.Arg86His) rs201095843
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
NM_032237.5(POMK):c.262G>C (p.Gly88Arg)
NM_032237.5(POMK):c.265G>A (p.Glu89Lys) rs925752217
NM_032237.5(POMK):c.268G>A (p.Gly90Arg) rs2130601657
NM_032237.5(POMK):c.276A>G (p.Val92=)
NM_032237.5(POMK):c.279G>A (p.Lys93=)
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
NM_032237.5(POMK):c.282+10G>A
NM_032237.5(POMK):c.282+12T>A rs1478878602
NM_032237.5(POMK):c.282+1G>C rs1206884841
NM_032237.5(POMK):c.283-19C>G rs748829841
NM_032237.5(POMK):c.283-6T>C
NM_032237.5(POMK):c.283-9_283-8del rs2130626184
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.28A>G (p.Arg10Gly) rs1811485587
NM_032237.5(POMK):c.311A>C (p.Lys104Thr)
NM_032237.5(POMK):c.311A>G (p.Lys104Arg)
NM_032237.5(POMK):c.312A>G (p.Lys104=)
NM_032237.5(POMK):c.315T>G (p.Val105=)
NM_032237.5(POMK):c.319C>T (p.Leu107Phe) rs867790285
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.333C>T (p.Thr111=)
NM_032237.5(POMK):c.33C>A (p.Gly11=) rs967238740
NM_032237.5(POMK):c.347A>G (p.Lys116Arg) rs2130626356
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
NM_032237.5(POMK):c.360C>T (p.Leu120=) rs144790751
NM_032237.5(POMK):c.36C>T (p.Leu12=)
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
NM_032237.5(POMK):c.383C>T (p.Ser128Phe) rs1482823387
NM_032237.5(POMK):c.385C>T (p.Leu129Phe)
NM_032237.5(POMK):c.386_387del (p.Leu129fs) rs2130626422
NM_032237.5(POMK):c.398_399del (p.His133fs)
NM_032237.5(POMK):c.39C>G (p.Ala13=) rs762781994
NM_032237.5(POMK):c.39C>T (p.Ala13=)
NM_032237.5(POMK):c.401T>A (p.Val134Asp)
NM_032237.5(POMK):c.404T>A (p.Val135Asp) rs2130626484
NM_032237.5(POMK):c.407C>A (p.Thr136Lys) rs138216719
NM_032237.5(POMK):c.408G>T (p.Thr136=)
NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)
NM_032237.5(POMK):c.420T>C (p.Tyr140=)
NM_032237.5(POMK):c.422G>C (p.Cys141Ser)
NM_032237.5(POMK):c.436A>T (p.Thr146Ser) rs1811932910
NM_032237.5(POMK):c.437C>G (p.Thr146Ser)
NM_032237.5(POMK):c.43C>G (p.Arg15Gly) rs774013796
NM_032237.5(POMK):c.43dup (p.Arg15fs) rs749980792
NM_032237.5(POMK):c.44G>T (p.Arg15Leu)
NM_032237.5(POMK):c.450A>G (p.Glu150=) rs1811933320
NM_032237.5(POMK):c.452_455dup (p.His152fs) rs2130626601
NM_032237.5(POMK):c.454C>A (p.His152Asn)
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
NM_032237.5(POMK):c.464G>C (p.Gly155Ala)
NM_032237.5(POMK):c.473G>A (p.Ser158Asn)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly) rs1811486808
NM_032237.5(POMK):c.481G>A (p.Glu161Lys) rs2130626660
NM_032237.5(POMK):c.489A>C (p.Thr163=)
NM_032237.5(POMK):c.502A>G (p.Lys168Glu)
NM_032237.5(POMK):c.504G>A (p.Lys168=)
NM_032237.5(POMK):c.505T>C (p.Tyr169His) rs2130626707
NM_032237.5(POMK):c.520A>G (p.Thr174Ala) rs753604559
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
NM_032237.5(POMK):c.522G>A (p.Thr174=)
NM_032237.5(POMK):c.53C>T (p.Pro18Leu)
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032237.5(POMK):c.545C>T (p.Ala182Val) rs1811935914
NM_032237.5(POMK):c.551A>G (p.Asp184Gly)
NM_032237.5(POMK):c.553T>C (p.Tyr185His)
NM_032237.5(POMK):c.555T>C (p.Tyr185=)
NM_032237.5(POMK):c.556G>T (p.Val186Phe) rs1241051300
NM_032237.5(POMK):c.576G>A (p.Leu192=) rs1227666493
NM_032237.5(POMK):c.577C>G (p.His193Asp)
NM_032237.5(POMK):c.598C>T (p.Arg200Trp)
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu) rs146214675
NM_032237.5(POMK):c.61del (p.Val21fs)
NM_032237.5(POMK):c.622C>T (p.Leu208=)
NM_032237.5(POMK):c.634C>G (p.Leu212Val)
NM_032237.5(POMK):c.641A>T (p.Gln214Leu) rs1250212576
NM_032237.5(POMK):c.642G>A (p.Gln214=)
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
NM_032237.5(POMK):c.657C>A (p.Ser219Arg) rs1811940888
NM_032237.5(POMK):c.661T>C (p.Phe221Leu) rs1811941055
NM_032237.5(POMK):c.719T>C (p.Met240Thr) rs1811942751
NM_032237.5(POMK):c.724dup (p.Val242fs)
NM_032237.5(POMK):c.737A>G (p.His246Arg)
NM_032237.5(POMK):c.739A>G (p.Arg247Gly)
NM_032237.5(POMK):c.745C>A (p.Leu249Met) rs2130627298
NM_032237.5(POMK):c.745C>T (p.Leu249=)
NM_032237.5(POMK):c.74T>C (p.Leu25Pro) rs1811488354
NM_032237.5(POMK):c.754dup (p.Asp252fs)
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.775C>T (p.Leu259=) rs947882915
NM_032237.5(POMK):c.803del (p.Phe268fs)
NM_032237.5(POMK):c.804C>T (p.Phe268=)
NM_032237.5(POMK):c.808G>C (p.Asp270His)
NM_032237.5(POMK):c.80T>C (p.Met27Thr) rs2130601203
NM_032237.5(POMK):c.817A>T (p.Met273Leu) rs1344780295
NM_032237.5(POMK):c.822C>G (p.Pro274=) rs1331879356
NM_032237.5(POMK):c.822C>T (p.Pro274=)
NM_032237.5(POMK):c.825A>T (p.Ser275=)
NM_032237.5(POMK):c.827A>G (p.Tyr276Cys) rs1811945936
NM_032237.5(POMK):c.847del (p.Trp283fs)
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
NM_032237.5(POMK):c.859G>C (p.Asp287His) rs1811947241
NM_032237.5(POMK):c.861C>T (p.Asp287=)
NM_032237.5(POMK):c.869G>C (p.Ser290Thr)
NM_032237.5(POMK):c.874C>T (p.Leu292Phe) rs1811947580
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.914A>G (p.His305Arg)
NM_032237.5(POMK):c.91_98dup (p.Leu34fs)
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032237.5(POMK):c.96T>G (p.Thr32=)
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054
NM_032237.5(POMK):c.999G>A (p.Lys333=)

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