ClinVar Miner

List of variants in gene TOP1MT reported as uncertain significance for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_052963.3(TOP1MT):c.65G>A (p.Arg22His) rs201456967 0.00075
NM_052963.3(TOP1MT):c.740C>T (p.Thr247Met) rs150737353 0.00068
NM_052963.3(TOP1MT):c.332G>A (p.Arg111Gln) rs147714048 0.00064
NM_052963.3(TOP1MT):c.355C>T (p.Arg119Ter) rs150442062 0.00042
NM_052963.3(TOP1MT):c.1424C>T (p.Thr475Met) rs186023772 0.00041
NM_052963.3(TOP1MT):c.649G>C (p.Asp217His) rs367544690 0.00033
NM_052963.3(TOP1MT):c.331C>T (p.Arg111Trp) rs201231510 0.00031
NM_052963.3(TOP1MT):c.598C>T (p.Arg200Cys) rs146761712 0.00026
NM_052963.3(TOP1MT):c.1329C>T (p.Arg443=) rs138330144 0.00025
NM_052963.3(TOP1MT):c.503A>G (p.Glu168Gly) rs200673353 0.00012
NM_052963.3(TOP1MT):c.985A>G (p.Lys329Glu) rs200414597 0.00010
NM_052963.3(TOP1MT):c.1369C>T (p.Arg457Ter) rs200573878 0.00009
NM_052963.3(TOP1MT):c.1597C>T (p.Gln533Ter) rs149953316 0.00008
NM_052963.3(TOP1MT):c.1421G>A (p.Ser474Asn) rs141292082 0.00007
NM_052963.3(TOP1MT):c.1800_1802del (p.Glu600_Phe601delinsAsp) rs779398707 0.00007
NM_052963.3(TOP1MT):c.1804T>A (p.Ter602Lys) rs144859839 0.00007
NM_052963.3(TOP1MT):c.217G>A (p.Gly73Arg) rs540500364 0.00007
NM_052963.3(TOP1MT):c.806C>T (p.Ser269Leu) rs138642876 0.00007
NM_052963.3(TOP1MT):c.880C>T (p.Arg294Cys) rs144092447 0.00006
NM_052963.3(TOP1MT):c.931C>T (p.Arg311Trp) rs375561204 0.00006
NM_052963.3(TOP1MT):c.1276C>T (p.Arg426Trp) rs776787819 0.00005
NM_052963.3(TOP1MT):c.1408C>T (p.Arg470Ter) rs200038590 0.00005
NM_052963.3(TOP1MT):c.671+4C>T rs373786310 0.00005
NM_052963.3(TOP1MT):c.718G>T (p.Val240Leu) rs370724693 0.00005
NM_052963.3(TOP1MT):c.1055C>T (p.Pro352Leu) rs376210738 0.00003
NM_052963.3(TOP1MT):c.19C>G (p.Leu7Val) rs759802113 0.00003
NM_052963.3(TOP1MT):c.35C>T (p.Ala12Val) rs777786281 0.00003
NM_052963.3(TOP1MT):c.935C>T (p.Ala312Val) rs764945190 0.00003
NM_052963.3(TOP1MT):c.154A>T (p.Lys52Ter) rs1383234389 0.00002
NM_052963.3(TOP1MT):c.1706G>A (p.Cys569Tyr) rs555135691 0.00002
NM_052963.3(TOP1MT):c.259G>A (p.Val87Met) rs776797089 0.00002
NM_052963.3(TOP1MT):c.360+3A>G rs772568350 0.00002
NM_052963.3(TOP1MT):c.1265C>T (p.Ala422Val) rs774102132 0.00001
NM_052963.3(TOP1MT):c.1502T>C (p.Leu501Pro) rs1390291631 0.00001
NM_052963.3(TOP1MT):c.1503G>T (p.Leu501=) rs1435099087 0.00001
NM_052963.3(TOP1MT):c.1511C>T (p.Ala504Val) rs1325634219 0.00001
NM_052963.3(TOP1MT):c.593G>A (p.Arg198His) rs751215094 0.00001
NM_052963.3(TOP1MT):c.641C>T (p.Thr214Met) rs371662022 0.00001
NM_052963.3(TOP1MT):c.760G>A (p.Glu254Lys) rs1249873642 0.00001
NM_052963.3(TOP1MT):c.782A>G (p.Lys261Arg) rs751327566 0.00001
NM_052963.3(TOP1MT):c.790A>G (p.Met264Val) rs754127144 0.00001
NM_052963.3(TOP1MT):c.839T>C (p.Phe280Ser) rs940604315 0.00001
NM_052963.3(TOP1MT):c.893G>A (p.Arg298Gln) rs577773438 0.00001
NC_000008.10:g.(?_144391611)_(144400276_?)del
NC_000008.10:g.(?_144391611)_(144417031_?)dup
NM_052963.3(TOP1MT):c.1031G>A (p.Arg344His)
NM_052963.3(TOP1MT):c.1063G>A (p.Asp355Asn) rs753593796
NM_052963.3(TOP1MT):c.1093T>G (p.Phe365Val) rs146709361
NM_052963.3(TOP1MT):c.1099G>T (p.Gly367Trp) rs1816333487
NM_052963.3(TOP1MT):c.1114C>T (p.Arg372Cys)
NM_052963.3(TOP1MT):c.1146G>A (p.Pro382=)
NM_052963.3(TOP1MT):c.1146G>C (p.Pro382=) rs374030470
NM_052963.3(TOP1MT):c.1189C>T (p.Arg397Trp)
NM_052963.3(TOP1MT):c.1190G>A (p.Arg397Gln)
NM_052963.3(TOP1MT):c.1215+1del
NM_052963.3(TOP1MT):c.1215C>T (p.Thr405=)
NM_052963.3(TOP1MT):c.122+6G>T
NM_052963.3(TOP1MT):c.1234C>T (p.His412Tyr) rs765897576
NM_052963.3(TOP1MT):c.1328G>A (p.Arg443His) rs1442565333
NM_052963.3(TOP1MT):c.1369C>G (p.Arg457Gly) rs200573878
NM_052963.3(TOP1MT):c.1370G>A (p.Arg457Gln) rs150897789
NM_052963.3(TOP1MT):c.1409G>A (p.Arg470Gln)
NM_052963.3(TOP1MT):c.1415C>T (p.Thr472Ile) rs145079137
NM_052963.3(TOP1MT):c.1594G>A (p.Glu532Lys)
NM_052963.3(TOP1MT):c.1661C>G (p.Thr554Arg) rs761519188
NM_052963.3(TOP1MT):c.1703+5G>T
NM_052963.3(TOP1MT):c.28C>T (p.Arg10Trp) rs1196191075
NM_052963.3(TOP1MT):c.32C>T (p.Ala11Val) rs780757876
NM_052963.3(TOP1MT):c.360+2T>G
NM_052963.3(TOP1MT):c.475G>A (p.Glu159Lys) rs1343856546
NM_052963.3(TOP1MT):c.499del (p.Ala167fs) rs2537438022
NM_052963.3(TOP1MT):c.59_61del (p.Pro20del) rs2537483375
NM_052963.3(TOP1MT):c.613A>G (p.Lys205Glu) rs971506466
NM_052963.3(TOP1MT):c.652G>C (p.Val218Leu)
NM_052963.3(TOP1MT):c.671+5G>T rs143596489
NM_052963.3(TOP1MT):c.771_778del (p.Gln257fs)
NM_052963.3(TOP1MT):c.799C>A (p.Pro267Thr) rs924949151
NM_052963.3(TOP1MT):c.817G>T (p.Gly273Trp) rs146854602
NM_052963.3(TOP1MT):c.818G>A (p.Gly273Glu)
NM_052963.3(TOP1MT):c.840T>G (p.Phe280Leu)
NM_052963.3(TOP1MT):c.840del (p.Phe280fs)
NM_052963.3(TOP1MT):c.842A>G (p.Glu281Gly) rs2537428532
NM_052963.3(TOP1MT):c.844del (p.Thr282fs)
NM_052963.3(TOP1MT):c.86C>G (p.Pro29Arg) rs777447001
NM_052963.3(TOP1MT):c.899A>G (p.Asp300Gly)
NM_052963.3(TOP1MT):c.911G>A (p.Arg304Gln) rs201977682
NM_052963.3(TOP1MT):c.923_925del (p.Thr308del) rs2537427767
NM_052963.3(TOP1MT):c.955G>A (p.Asp319Asn) rs143769145
NM_052963.3(TOP1MT):c.955G>C (p.Asp319His) rs143769145
NM_052963.3(TOP1MT):c.960+1G>T rs781461370
NM_052963.3(TOP1MT):c.960+6C>T
NM_052963.3(TOP1MT):c.985_987del (p.Lys329del) rs778053582

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