ClinVar Miner

List of variants in gene DTNA studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_001386795.1(DTNA):c.149-285A>T rs1383291 0.81703
NM_001386795.1(DTNA):c.149-265A>C rs1383290 0.45586
NM_001386795.1(DTNA):c.1002-2486C>T rs1626394 0.30854
NM_001386795.1(DTNA):c.1253+130G>A rs1954861 0.30301
NM_001386795.1(DTNA):c.2162+21A>G rs2288085 0.29006
NM_001386795.1(DTNA):c.1086-464T>C rs9946576 0.27097
NM_001386795.1(DTNA):c.1175+118T>C rs1790534 0.26445
NM_001386795.1(DTNA):c.877-239G>T rs1786597 0.25583
NM_001386795.1(DTNA):c.1253+51T>A rs17557695 0.24952
NM_001386795.1(DTNA):c.2163-137A>G rs623966 0.22610
NM_001386795.1(DTNA):c.1743+2273A>G rs582352 0.19855
NM_001386795.1(DTNA):c.*2761C>T rs7227051 0.19742
NM_001386795.1(DTNA):c.603+168A>G rs59586657 0.18779
NM_001386795.1(DTNA):c.1904-246A>T rs693540 0.18771
NM_001386795.1(DTNA):c.363-82C>A rs11664472 0.18434
NM_001386795.1(DTNA):c.1743+2409C>T rs506619 0.18355
NM_001386795.1(DTNA):c.1743+159C>T rs9963649 0.18292
NM_001386795.1(DTNA):c.1646+305C>G rs1786584 0.18246
NM_001386795.1(DTNA):c.1532+225A>G rs1786606 0.18215
NM_001386795.1(DTNA):c.448+72T>C rs9952711 0.18162
NM_001386795.1(DTNA):c.363-102A>G rs11664422 0.18124
NM_001386795.1(DTNA):c.1743+2271C>T rs507645 0.17406
NM_001386795.1(DTNA):c.2295+253C>T rs8095931 0.16500
NM_001386795.1(DTNA):c.876+474C>A rs72963047 0.16391
NM_001386795.1(DTNA):c.363-198A>G rs11664400 0.15467
NM_001386795.1(DTNA):c.2295+200C>T rs8095787 0.15417
NM_001386795.1(DTNA):c.1743+140A>G rs16966095 0.15094
NM_001386795.1(DTNA):c.876+747A>T rs1790525 0.14606
NM_001386795.1(DTNA):c.877-169G>T rs1790540 0.14597
NM_001386795.1(DTNA):c.1001+31del rs3216115 0.14579
NM_001386795.1(DTNA):c.603+137G>A rs72963034 0.14420
NM_001386795.1(DTNA):c.710-544C>T rs9959254 0.12157
NM_001386795.1(DTNA):c.1002-132A>G rs1790526 0.10553
NM_001386795.1(DTNA):c.1254-75T>A rs1941753 0.09979
NM_001386795.1(DTNA):c.363-58T>C rs4458079 0.09905
NM_001386795.1(DTNA):c.*2272C>T rs10502637 0.08483
NM_001386795.1(DTNA):c.362+129A>G rs79500711 0.07115
NM_032975.4(DTNA):c.-126-99A>T rs3875084 0.06618
NM_001386795.1(DTNA):c.448+238C>A rs9963765 0.05466
NM_001386795.1(DTNA):c.1253+54A>G rs73949007 0.03074
NM_001386795.1(DTNA):c.1085+250A>G rs60191917 0.03067
NM_001386795.1(DTNA):c.1994-138A>G rs58591324 0.02935
NM_001386795.1(DTNA):c.363-150A>G rs16965989 0.02751
NM_001386795.1(DTNA):c.-1-287A>T rs75850110 0.02738
NM_001386795.1(DTNA):c.2295+321C>T rs140634474 0.02139
NM_001386795.1(DTNA):c.709+260G>A rs145396517 0.01892
NM_001386795.1(DTNA):c.*234G>A rs16966155 0.01830
NM_001386795.1(DTNA):c.1002-2609G>A rs16966029 0.01703
NM_001386795.1(DTNA):c.149-181T>C rs73412657 0.01642
NM_001386795.1(DTNA):c.603+167C>T rs76038129 0.01510
NM_001386795.1(DTNA):c.1532+220G>C rs112067476 0.01472
NM_032975.4(DTNA):c.-126-85723C>T rs116012046 0.01138
NM_001386795.1(DTNA):c.-1-279A>G rs6650657 0.01080
NM_001386795.1(DTNA):c.2296-102C>G rs28650208 0.01067
NM_001386795.1(DTNA):c.1434+222G>A rs71363470 0.00966
NM_001386795.1(DTNA):c.449-106A>G rs7237746 0.00951
NM_001386795.1(DTNA):c.362+260T>C rs34669760 0.00922
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) rs114170541 0.00902
NM_001386795.1(DTNA):c.1175+208T>G rs77785636 0.00888
NM_001386795.1(DTNA):c.1175+190C>T rs148773881 0.00886
NM_001386795.1(DTNA):c.1002-2535A>G rs115311309 0.00885
NM_001386795.1(DTNA):c.*2523A>G rs114631141 0.00813
NM_001386795.1(DTNA):c.1086-472A>G rs117594057 0.00794
NM_001386795.1(DTNA):c.1086-516T>A rs139678659 0.00718
NM_001386795.1(DTNA):c.68-242C>G rs190610201 0.00703
NM_001386795.1(DTNA):c.1435-83C>A rs73949013 0.00655
NM_001386795.1(DTNA):c.1646+283G>A rs185245450 0.00514
NM_001386795.1(DTNA):c.1176-254A>G rs73418640 0.00462
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001386795.1(DTNA):c.1532+135T>C rs75355506 0.00369
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_001386795.1(DTNA):c.1743+72G>A rs116598952 0.00296
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001386795.1(DTNA):c.148+29A>G rs75545220 0.00231
NM_001386795.1(DTNA):c.1904-230T>C rs147637404 0.00230
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_001386795.1(DTNA):c.1149C>T (p.Tyr383=) rs559493183 0.00051
NM_001386795.1(DTNA):c.1176-47C>A rs150347998 0.00048
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001386795.1(DTNA):c.51G>A (p.Gln17=) rs368000651 0.00030
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=) rs144776465 0.00025
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) rs376001633 0.00020
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=) rs187028045 0.00020
NM_032975.4(DTNA):c.-126-85934C>T rs748544066 0.00020
NM_001386795.1(DTNA):c.*2600C>T rs794729006 0.00019
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=) rs372620035 0.00019
NM_001386795.1(DTNA):c.*2571C>T rs779508079 0.00016
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001386795.1(DTNA):c.1308C>T (p.Ile436=) rs368913791 0.00011
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_001386795.1(DTNA):c.1086-321A>C rs191973037 0.00010
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) rs201071018 0.00010
NM_001386795.1(DTNA):c.371A>G (p.His124Arg) rs150147476 0.00009
NM_001386795.1(DTNA):c.*2592C>T rs530439494 0.00008
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) rs190619495 0.00008
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala) rs199960642 0.00008
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp) rs147782267 0.00007
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met) rs199828427 0.00006
NM_001386795.1(DTNA):c.239G>A (p.Arg80His) rs774912781 0.00006
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp) rs749405895 0.00005
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=) rs373742103 0.00005
NM_001386795.1(DTNA):c.675G>A (p.Leu225=) rs376519672 0.00005
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His) rs111587625 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) rs199983981 0.00004
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile) rs749109824 0.00003
NM_001386795.1(DTNA):c.479G>A (p.Gly160Glu) rs201550119 0.00003
NM_001386795.1(DTNA):c.604-13T>G rs761037945 0.00003
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys) rs536920784 0.00003
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly) rs767620520 0.00002
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp) rs774768713 0.00002
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile) rs745752400 0.00002
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met) rs747834756 0.00002
NM_001386795.1(DTNA):c.-2+12T>C rs1231051971 0.00001
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu) rs1293106380 0.00001
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn) rs374347283 0.00001
NM_001386795.1(DTNA):c.112G>A (p.Ala38Thr) rs200256996 0.00001
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg) rs1298586276 0.00001
NM_001386795.1(DTNA):c.1613A>G (p.Asn538Ser) rs770486884 0.00001
NM_001386795.1(DTNA):c.1649A>G (p.Gln550Arg) rs1436377008 0.00001
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) rs774966330 0.00001
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr) rs772866088 0.00001
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu) rs1456993704 0.00001
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) rs533568822 0.00001
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln) rs371303988 0.00001
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) rs200736432 0.00001
NM_001386795.1(DTNA):c.358G>C (p.Asp120His) rs1401291574 0.00001
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) rs147115867 0.00001
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr) rs769662524 0.00001
NM_001386795.1(DTNA):c.660G>T (p.Gln220His) rs1031348434 0.00001
NM_001386795.1(DTNA):c.68-5A>G rs1243110074 0.00001
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val) rs771510372 0.00001
NM_001386795.1(DTNA):c.720G>A (p.Pro240=) rs778548302 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_001386795.1(DTNA):c.840T>C (p.His280=) rs933476610 0.00001
NM_001386795.1(DTNA):c.93A>G (p.Arg31=) rs778817036 0.00001
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg) rs138085660 0.00001
NM_001386795.1(DTNA):c.962C>T (p.Pro321Leu) rs774455487 0.00001
GRCh37/hg19 18q12.1(chr18:32019324-32389224)x3
NM_001386795.1(DTNA):c.*2601del rs1198295453
NM_001386795.1(DTNA):c.-2+231GT[11] rs113472325
NM_001386795.1(DTNA):c.-2+231GT[12] rs113472325
NM_001386795.1(DTNA):c.-2+231GT[14] rs113472325
NM_001386795.1(DTNA):c.-2+231GT[15] rs113472325
NM_001386795.1(DTNA):c.1001+125dup
NM_001386795.1(DTNA):c.1002-2520del rs140760840
NM_001386795.1(DTNA):c.1002-2520dup rs140760840
NM_001386795.1(DTNA):c.1002-2635_1002-2631del rs148188981
NM_001386795.1(DTNA):c.1002-2640del rs35456039
NM_001386795.1(DTNA):c.1002-2640dup rs35456039
NM_001386795.1(DTNA):c.1002-2641_1002-2640dup rs35456039
NM_001386795.1(DTNA):c.1002-2642_1002-2640del rs35456039
NM_001386795.1(DTNA):c.1167C>T (p.His389=)
NM_001386795.1(DTNA):c.1295A>C (p.Glu432Ala)
NM_001386795.1(DTNA):c.1325T>C (p.Met442Thr) rs1057524416
NM_001386795.1(DTNA):c.1347-69del rs150998285
NM_001386795.1(DTNA):c.148+144G>T rs1383288
NM_001386795.1(DTNA):c.149-128T>C rs9989533
NM_001386795.1(DTNA):c.1545G>A (p.Gln515=) rs1057521200
NM_001386795.1(DTNA):c.1743+205_1743+206dup rs555273655
NM_001386795.1(DTNA):c.1743+206dup rs555273655
NM_001386795.1(DTNA):c.1743+212G>A rs576838640
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.1877G>A (p.Gly626Glu) rs200805008
NM_001386795.1(DTNA):c.1993+161del rs140501534
NM_001386795.1(DTNA):c.1999G>A (p.Gly667Arg)
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro) rs1060503523
NM_001386795.1(DTNA):c.2163-210dup rs35635435
NM_001386795.1(DTNA):c.2296-101TG[3] rs35187424
NM_001386795.1(DTNA):c.2296-194_2296-193del rs10554763
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) rs147759402
NM_001386795.1(DTNA):c.331C>T (p.Leu111Phe) rs1555801105
NM_001386795.1(DTNA):c.496C>T (p.Arg166Ter) rs2095495862
NM_001386795.1(DTNA):c.537G>A (p.Thr179=) rs11877640
NM_001386795.1(DTNA):c.574C>T (p.Gln192Ter) rs2149332392
NM_001386795.1(DTNA):c.604-7dup
NM_001390.4(DTNA):c.*31+205G>C rs565255
NM_001390.4(DTNA):c.*31+205G>T rs565255
NM_032975.4(DTNA):c.-126-85981G>C
NM_032975.4(DTNA):c.-127+62G>A rs112193831

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