ClinVar Miner

List of variants in gene TOP1MT studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052963.3(TOP1MT):c.1704-15T>C rs7386475 0.48924
NM_052963.3(TOP1MT):c.1573C>T (p.Arg525Trp) rs2293925 0.35871
NM_052963.3(TOP1MT):c.766G>A (p.Val256Ile) rs11544484 0.33611
NM_052963.3(TOP1MT):c.1032C>G (p.Arg344=) rs11544482 0.33123
NM_052963.3(TOP1MT):c.122+9T>G rs2450775 0.24352
NM_052963.3(TOP1MT):c.216C>T (p.Asp72=) rs2450772 0.20053
NM_052963.3(TOP1MT):c.1068C>T (p.Gly356=) rs61631623 0.12874
NM_052963.3(TOP1MT):c.59C>G (p.Pro20Arg) rs201559470 0.03683
NM_052963.3(TOP1MT):c.1779C>T (p.Ala593=) rs112672243 0.01174
NM_052963.3(TOP1MT):c.512A>G (p.Gln171Arg) rs79138102 0.01032
NM_052963.3(TOP1MT):c.1216-14A>G rs139312718 0.00264
NM_052963.3(TOP1MT):c.1230C>T (p.Asn410=) rs146827342 0.00222
NM_052963.3(TOP1MT):c.1215+8G>A rs184302519 0.00205
NM_052963.3(TOP1MT):c.104A>G (p.Gln35Arg) rs139901836 0.00160
NM_052963.3(TOP1MT):c.1754G>A (p.Arg585Gln) rs147154528 0.00116
NM_052963.3(TOP1MT):c.592C>T (p.Arg198Cys) rs148068470 0.00111
NM_052963.3(TOP1MT):c.698C>T (p.Ala233Val) rs149499111 0.00111
NM_052963.3(TOP1MT):c.1030C>T (p.Arg344Cys) rs72701720 0.00106
NM_052963.3(TOP1MT):c.133G>A (p.Glu45Lys) rs150542670 0.00089
NM_052963.3(TOP1MT):c.147C>T (p.Asp49=) rs147991386 0.00081
NM_052963.3(TOP1MT):c.65G>A (p.Arg22His) rs201456967 0.00075
NM_052963.3(TOP1MT):c.369G>A (p.Ala123=) rs142254384 0.00072
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.672-15G>A rs200461392 0.00043
NM_052963.3(TOP1MT):c.598C>T (p.Arg200Cys) rs146761712 0.00026
NM_052963.3(TOP1MT):c.367G>A (p.Ala123Thr) rs200358794 0.00023
NM_052963.3(TOP1MT):c.1436C>T (p.Ser479Leu) rs141145196 0.00013
NM_052963.3(TOP1MT):c.1704-5C>T rs201063889 0.00011
NM_052963.3(TOP1MT):c.1597C>T (p.Gln533Ter) rs149953316 0.00008
NM_052963.3(TOP1MT):c.985A>G (p.Lys329Glu) rs200414597 0.00008
NM_052963.3(TOP1MT):c.360+19C>T rs748950924 0.00007
NM_052963.3(TOP1MT):c.1326G>A (p.Thr442=) rs200378024 0.00006
NM_052963.3(TOP1MT):c.1408C>T (p.Arg470Ter) rs200038590 0.00005
NM_052963.3(TOP1MT):c.1662G>A (p.Thr554=) rs1040162705 0.00003
NM_052963.3(TOP1MT):c.238+14G>A rs565728412 0.00003
NM_052963.3(TOP1MT):c.935C>T (p.Ala312Val) rs764945190 0.00003
NM_052963.3(TOP1MT):c.1554-18C>T rs752348290 0.00001
NM_052963.3(TOP1MT):c.360+3A>G rs772568350 0.00001
NC_000008.10:g.(?_144391611)_(144400276_?)del
NC_000008.10:g.(?_144391611)_(144417031_?)dup
NM_052963.3(TOP1MT):c.1005C>T (p.Ala335=)
NM_052963.3(TOP1MT):c.1012G>T (p.Val338Leu) rs114379623
NM_052963.3(TOP1MT):c.1017C>T (p.Gly339=)
NM_052963.3(TOP1MT):c.1031G>A (p.Arg344His)
NM_052963.3(TOP1MT):c.1055C>T (p.Pro352Leu)
NM_052963.3(TOP1MT):c.1056G>C (p.Pro352=)
NM_052963.3(TOP1MT):c.1063G>A (p.Asp355Asn)
NM_052963.3(TOP1MT):c.1093T>G (p.Phe365Val)
NM_052963.3(TOP1MT):c.1099G>T (p.Gly367Trp)
NM_052963.3(TOP1MT):c.1114C>T (p.Arg372Cys)
NM_052963.3(TOP1MT):c.1146+10C>G
NM_052963.3(TOP1MT):c.1146+13G>A
NM_052963.3(TOP1MT):c.1146G>A (p.Pro382=)
NM_052963.3(TOP1MT):c.1146G>C (p.Pro382=)
NM_052963.3(TOP1MT):c.1147-17C>T
NM_052963.3(TOP1MT):c.1147-9C>T
NM_052963.3(TOP1MT):c.1149G>A (p.Val383=)
NM_052963.3(TOP1MT):c.1189C>T (p.Arg397Trp)
NM_052963.3(TOP1MT):c.1190G>A (p.Arg397Gln)
NM_052963.3(TOP1MT):c.1194C>T (p.Asp398=)
NM_052963.3(TOP1MT):c.1215+1del
NM_052963.3(TOP1MT):c.1215+7C>T
NM_052963.3(TOP1MT):c.1215C>T (p.Thr405=)
NM_052963.3(TOP1MT):c.1216-10del
NM_052963.3(TOP1MT):c.1216-6C>T
NM_052963.3(TOP1MT):c.1216-9C>T
NM_052963.3(TOP1MT):c.122+6G>T
NM_052963.3(TOP1MT):c.1234C>T (p.His412Tyr)
NM_052963.3(TOP1MT):c.1265C>T (p.Ala422Val)
NM_052963.3(TOP1MT):c.1276C>T (p.Arg426Trp)
NM_052963.3(TOP1MT):c.1281C>G (p.Thr427=)
NM_052963.3(TOP1MT):c.1287C>T (p.Asn429=)
NM_052963.3(TOP1MT):c.1300C>T (p.Leu434=)
NM_052963.3(TOP1MT):c.1321C>T (p.Leu441=)
NM_052963.3(TOP1MT):c.1323G>A (p.Leu441=)
NM_052963.3(TOP1MT):c.1328G>A (p.Arg443His)
NM_052963.3(TOP1MT):c.1329C>T (p.Arg443=)
NM_052963.3(TOP1MT):c.1330+7_1330+8inv
NM_052963.3(TOP1MT):c.1331-11G>A
NM_052963.3(TOP1MT):c.1332C>T (p.Ala444=)
NM_052963.3(TOP1MT):c.1356C>T (p.Ile452=)
NM_052963.3(TOP1MT):c.1369C>G (p.Arg457Gly)
NM_052963.3(TOP1MT):c.1369C>T (p.Arg457Ter)
NM_052963.3(TOP1MT):c.1370G>A (p.Arg457Gln)
NM_052963.3(TOP1MT):c.1370G>C (p.Arg457Pro) rs150897789
NM_052963.3(TOP1MT):c.1392T>C (p.Ile464=)
NM_052963.3(TOP1MT):c.1409G>A (p.Arg470Gln)
NM_052963.3(TOP1MT):c.1415C>T (p.Thr472Ile)
NM_052963.3(TOP1MT):c.1416C>G (p.Thr472=)
NM_052963.3(TOP1MT):c.1421G>A (p.Ser474Asn)
NM_052963.3(TOP1MT):c.1424C>T (p.Thr475Met)
NM_052963.3(TOP1MT):c.1425G>T (p.Thr475=)
NM_052963.3(TOP1MT):c.1429G>A (p.Glu477Lys)
NM_052963.3(TOP1MT):c.1431G>A (p.Glu477=)
NM_052963.3(TOP1MT):c.144A>G (p.Glu48=)
NM_052963.3(TOP1MT):c.1455G>A (p.Thr485=)
NM_052963.3(TOP1MT):c.1459-12C>T
NM_052963.3(TOP1MT):c.1502T>C (p.Leu501Pro)
NM_052963.3(TOP1MT):c.1503G>T (p.Leu501=)
NM_052963.3(TOP1MT):c.1511C>T (p.Ala504Val)
NM_052963.3(TOP1MT):c.154A>T (p.Lys52Ter)
NM_052963.3(TOP1MT):c.1553+10C>T
NM_052963.3(TOP1MT):c.1553+12T>A
NM_052963.3(TOP1MT):c.1554-16C>T
NM_052963.3(TOP1MT):c.1558C>T (p.Leu520=)
NM_052963.3(TOP1MT):c.1579C>T (p.Leu527=)
NM_052963.3(TOP1MT):c.1594G>A (p.Glu532Lys)
NM_052963.3(TOP1MT):c.1605G>A (p.Ala535=)
NM_052963.3(TOP1MT):c.1609C>T (p.Leu537=)
NM_052963.3(TOP1MT):c.1661C>G (p.Thr554Arg)
NM_052963.3(TOP1MT):c.1703+16del rs765097326
NM_052963.3(TOP1MT):c.1703+5G>T
NM_052963.3(TOP1MT):c.1704-4G>A
NM_052963.3(TOP1MT):c.1706G>A (p.Cys569Tyr)
NM_052963.3(TOP1MT):c.1713G>C (p.Arg571=)
NM_052963.3(TOP1MT):c.1800_1802del (p.Glu600_Phe601delinsAsp)
NM_052963.3(TOP1MT):c.1804T>A (p.Ter602Lys)
NM_052963.3(TOP1MT):c.189C>T (p.Phe63=)
NM_052963.3(TOP1MT):c.190G>A (p.Ala64Thr)
NM_052963.3(TOP1MT):c.19C>G (p.Leu7Val)
NM_052963.3(TOP1MT):c.201C>T (p.Tyr67=) rs184814384
NM_052963.3(TOP1MT):c.217G>A (p.Gly73Arg)
NM_052963.3(TOP1MT):c.238+17C>T
NM_052963.3(TOP1MT):c.239-11G>A
NM_052963.3(TOP1MT):c.239-12C>T
NM_052963.3(TOP1MT):c.258C>T (p.Ser86=)
NM_052963.3(TOP1MT):c.259G>A (p.Val87Met)
NM_052963.3(TOP1MT):c.267G>A (p.Ala89=)
NM_052963.3(TOP1MT):c.271G>C (p.Glu91Gln)
NM_052963.3(TOP1MT):c.277G>A (p.Ala93Thr)
NM_052963.3(TOP1MT):c.28C>T (p.Arg10Trp)
NM_052963.3(TOP1MT):c.327T>C (p.Val109=)
NM_052963.3(TOP1MT):c.32C>T (p.Ala11Val)
NM_052963.3(TOP1MT):c.331C>T (p.Arg111Trp)
NM_052963.3(TOP1MT):c.348T>C (p.Asn116=)
NM_052963.3(TOP1MT):c.355C>T (p.Arg119Ter)
NM_052963.3(TOP1MT):c.35C>T (p.Ala12Val)
NM_052963.3(TOP1MT):c.360+12G>C
NM_052963.3(TOP1MT):c.360+20G>A
NM_052963.3(TOP1MT):c.360+2T>G
NM_052963.3(TOP1MT):c.360+9C>A
NM_052963.3(TOP1MT):c.361-19G>A
NM_052963.3(TOP1MT):c.420G>T (p.Glu140Asp)
NM_052963.3(TOP1MT):c.432C>T (p.Tyr144=)
NM_052963.3(TOP1MT):c.447C>T (p.Ala149=)
NM_052963.3(TOP1MT):c.475G>A (p.Glu159Lys)
NM_052963.3(TOP1MT):c.48C>T (p.Leu16=)
NM_052963.3(TOP1MT):c.499del (p.Ala167fs)
NM_052963.3(TOP1MT):c.503A>G (p.Glu168Gly)
NM_052963.3(TOP1MT):c.567C>T (p.Phe189=)
NM_052963.3(TOP1MT):c.593G>A (p.Arg198His)
NM_052963.3(TOP1MT):c.59_61del (p.Pro20del)
NM_052963.3(TOP1MT):c.613A>G (p.Lys205Glu)
NM_052963.3(TOP1MT):c.641C>T (p.Thr214Met)
NM_052963.3(TOP1MT):c.649G>C (p.Asp217His)
NM_052963.3(TOP1MT):c.652G>C (p.Val218Leu)
NM_052963.3(TOP1MT):c.671+15G>A
NM_052963.3(TOP1MT):c.671+4C>T
NM_052963.3(TOP1MT):c.671+5G>T
NM_052963.3(TOP1MT):c.687C>T (p.Pro229=)
NM_052963.3(TOP1MT):c.696G>T (p.Pro232=)
NM_052963.3(TOP1MT):c.699G>C (p.Ala233=)
NM_052963.3(TOP1MT):c.718G>T (p.Val240Leu)
NM_052963.3(TOP1MT):c.759C>T (p.Thr253=)
NM_052963.3(TOP1MT):c.760G>A (p.Glu254Lys)
NM_052963.3(TOP1MT):c.771_778del (p.Gln257fs)
NM_052963.3(TOP1MT):c.782A>G (p.Lys261Arg)
NM_052963.3(TOP1MT):c.790A>G (p.Met264Val)
NM_052963.3(TOP1MT):c.799C>A (p.Pro267Thr)
NM_052963.3(TOP1MT):c.806C>T (p.Ser269Leu)
NM_052963.3(TOP1MT):c.816+7G>A
NM_052963.3(TOP1MT):c.817-6G>A
NM_052963.3(TOP1MT):c.817G>T (p.Gly273Trp)
NM_052963.3(TOP1MT):c.818G>A (p.Gly273Glu)
NM_052963.3(TOP1MT):c.839T>C (p.Phe280Ser)
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)
NM_052963.3(TOP1MT):c.844del (p.Thr282fs)
NM_052963.3(TOP1MT):c.84C>T (p.Val28=)
NM_052963.3(TOP1MT):c.86C>G (p.Pro29Arg)
NM_052963.3(TOP1MT):c.880C>T (p.Arg294Cys)
NM_052963.3(TOP1MT):c.893G>A (p.Arg298Gln)
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)
NM_052963.3(TOP1MT):c.931C>T (p.Arg311Trp)
NM_052963.3(TOP1MT):c.955G>A (p.Asp319Asn)
NM_052963.3(TOP1MT):c.955G>C (p.Asp319His) rs143769145
NM_052963.3(TOP1MT):c.960+11T>C
NM_052963.3(TOP1MT):c.960+1G>T
NM_052963.3(TOP1MT):c.960+6C>T
NM_052963.3(TOP1MT):c.961-9A>C
NM_052963.3(TOP1MT):c.966A>C (p.Ala322=)
NM_052963.3(TOP1MT):c.969G>A (p.Leu323=) rs1275560180
NM_052963.3(TOP1MT):c.985_987del (p.Lys329del)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.