ClinVar Miner

List of variants in gene POMK reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200 0.00016
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.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.407C>T (p.Thr136Met) rs138216719 0.00006
NM_032237.5(POMK):c.701T>C (p.Val234Ala) rs185390123 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.236C>G (p.Thr79Arg) rs773908820 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.715G>A (p.Gly239Arg) rs35104071 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.68T>C (p.Leu23Pro) rs200277006 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.115G>A (p.Asp39Asn) rs775170725 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.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.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.580C>T (p.His194Tyr) rs565775459 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.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.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
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.154C>T (p.Pro52Ser)
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.257G>A (p.Arg86His) rs201095843
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
NM_032237.5(POMK):c.265G>A (p.Glu89Lys) rs925752217
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.319C>T (p.Leu107Phe) rs867790285
NM_032237.5(POMK):c.347A>G (p.Lys116Arg) rs2130626356
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.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.419A>G (p.Tyr140Cys)
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.44G>T (p.Arg15Leu)
NM_032237.5(POMK):c.454C>A (p.His152Asn)
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
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.502A>G (p.Lys168Glu)
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.53C>T (p.Pro18Leu)
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.556G>T (p.Val186Phe) rs1241051300
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.634C>G (p.Leu212Val)
NM_032237.5(POMK):c.641A>T (p.Gln214Leu) rs1250212576
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.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.74T>C (p.Leu25Pro) rs1811488354
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
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.827A>G (p.Tyr276Cys) rs1811945936
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
NM_032237.5(POMK):c.859G>C (p.Asp287His) rs1811947241
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.938G>A (p.Cys313Tyr)
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054

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