ClinVar Miner

List of variants in gene DNAJC6 studied for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=) rs4582839 0.69474
NM_001256864.2(DNAJC6):c.194-21G>T rs2296478 0.58031
NM_001256864.2(DNAJC6):c.194-19T>G rs2296479 0.57220
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=) rs4325172 0.44325
NM_001256864.2(DNAJC6):c.544-9C>T rs2296481 0.25003
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=) rs7551930 0.01341
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_001256864.2(DNAJC6):c.1320A>T (p.Thr440=) rs142136708 0.00462
NM_001256864.2(DNAJC6):c.194-5G>T rs753576283 0.00359
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) rs149588872 0.00357
NM_001256864.2(DNAJC6):c.194-18T>G rs201249130 0.00252
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser) rs145329294 0.00237
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser) rs113143702 0.00201
NM_001256864.2(DNAJC6):c.996-9T>C rs187965193 0.00178
NM_001256864.2(DNAJC6):c.194-16T>G rs772643958 0.00119
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu) rs143504255 0.00116
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=) rs148204207 0.00101
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=) rs61758427 0.00078
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=) rs61733018 0.00076
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu) rs61757223 0.00046
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr) rs146050826 0.00045
NM_001256864.2(DNAJC6):c.194-17T>G rs372128441 0.00032
NM_001256864.2(DNAJC6):c.198C>T (p.Ala66=) rs374727491 0.00030
NM_001256864.2(DNAJC6):c.1113G>A (p.Lys371=) rs144924736 0.00022
NM_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr) rs201840876 0.00015
NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=) rs148145327 0.00015
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser) rs191459935 0.00015
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=) rs146062011 0.00013
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val) rs200712827 0.00012
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val) rs375368522 0.00011
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=) rs540477402 0.00010
NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=) rs193114909 0.00009
NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=) rs149097758 0.00009
NM_001256864.2(DNAJC6):c.992T>C (p.Met331Thr) rs760136045 0.00009
NM_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val) rs141779215 0.00007
NM_001256864.2(DNAJC6):c.1607A>G (p.Lys536Arg) rs376992397 0.00006
NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln) rs772437036 0.00006
NM_001256864.2(DNAJC6):c.1194-9C>G rs370864885 0.00005
NM_001256864.2(DNAJC6):c.264G>A (p.Gly88=) rs139946043 0.00005
NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=) rs148209150 0.00005
NM_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys) rs141833490 0.00005
NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile) rs754115488 0.00004
NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=) rs202109326 0.00004
NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=) rs148673423 0.00004
NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys) rs377366345 0.00004
NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=) rs371984320 0.00004
NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn) rs140156759 0.00004
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=) rs113490907 0.00004
NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser) rs369274494 0.00004
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=) rs753691766 0.00004
NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr) rs755391548 0.00004
NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=) rs779540362 0.00003
NM_001256864.2(DNAJC6):c.1904-12A>G rs774888599 0.00003
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=) rs370155769 0.00003
NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val) rs776225529 0.00003
NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His) rs757458350 0.00003
NM_001256864.2(DNAJC6):c.1533G>A (p.Glu511=) rs773744229 0.00002
NM_001256864.2(DNAJC6):c.1709C>T (p.Pro570Leu) rs751850074 0.00002
NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly) rs1296532855 0.00002
NM_001256864.2(DNAJC6):c.1990A>G (p.Ser664Gly) rs986073706 0.00002
NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly) rs145175543 0.00002
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly) rs747034717 0.00002
NM_001256864.2(DNAJC6):c.2151C>T (p.Thr717=) rs145501615 0.00002
NM_001256864.2(DNAJC6):c.344+4C>T rs561389842 0.00002
NM_001256864.2(DNAJC6):c.518A>G (p.Tyr173Cys) rs1428381539 0.00002
NM_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala) rs956622990 0.00001
NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly) rs547312338 0.00001
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu) rs1230286867 0.00001
NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu) rs747115530 0.00001
NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=) rs201766287 0.00001
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=) rs1412214392 0.00001
NM_001256864.2(DNAJC6):c.1877C>T (p.Ala626Val) rs761922985 0.00001
NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His) rs1363537326 0.00001
NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser) rs749594846 0.00001
NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg) rs1462099424 0.00001
NM_001256864.2(DNAJC6):c.2107+3A>G rs371583880 0.00001
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_001256864.2(DNAJC6):c.2228-3T>C rs753885398 0.00001
NM_001256864.2(DNAJC6):c.224A>G (p.Tyr75Cys) rs1394529150 0.00001
NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe) rs917235831 0.00001
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His) rs201984806 0.00001
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met) rs200138922 0.00001
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu) rs1203943853 0.00001
NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu) rs1380186979 0.00001
NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln) rs895749847 0.00001
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=) rs755098010 0.00001
NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly) rs368290134 0.00001
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=) rs371261372 0.00001
NC_000001.10:g.(?_65849856)_(65855330_?)dup
NM_001256864.2(DNAJC6):c.1012G>C (p.Asp338His)
NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)
NM_001256864.2(DNAJC6):c.117G>A (p.Gln39=)
NM_001256864.2(DNAJC6):c.1185G>A (p.Lys395=)
NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=) rs2101607355
NM_001256864.2(DNAJC6):c.128C>T (p.Ala43Val)
NM_001256864.2(DNAJC6):c.1348T>G (p.Ser450Ala) rs1645902989
NM_001256864.2(DNAJC6):c.1383A>G (p.Leu461=)
NM_001256864.2(DNAJC6):c.1388-18G>A
NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)
NM_001256864.2(DNAJC6):c.1446C>A (p.Phe482Leu) rs1645906223
NM_001256864.2(DNAJC6):c.149C>T (p.Pro50Leu)
NM_001256864.2(DNAJC6):c.1504C>T (p.His502Tyr)
NM_001256864.2(DNAJC6):c.1569G>A (p.Pro523=)
NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)
NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln) rs916872480
NM_001256864.2(DNAJC6):c.1651C>A (p.Pro551Thr) rs377495314
NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)
NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe) rs1262741318
NM_001256864.2(DNAJC6):c.1741C>G (p.Leu581Val)
NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His) rs2101614376
NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro) rs199937139
NM_001256864.2(DNAJC6):c.1819C>A (p.Pro607Thr)
NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)
NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr) rs1015326337
NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=) rs2101614479
NM_001256864.2(DNAJC6):c.1856G>A (p.Arg619His) rs139509177
NM_001256864.2(DNAJC6):c.1894G>C (p.Val632Leu)
NM_001256864.2(DNAJC6):c.194-13T>G rs765899995
NM_001256864.2(DNAJC6):c.194-15T>G
NM_001256864.2(DNAJC6):c.194-6del rs58549467
NM_001256864.2(DNAJC6):c.194-7_194-6del
NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)
NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn) rs2101618114
NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=) rs185245369
NM_001256864.2(DNAJC6):c.2038+3A>G rs961974767
NM_001256864.2(DNAJC6):c.2039-4G>T
NM_001256864.2(DNAJC6):c.2106A>G (p.Pro702=)
NM_001256864.2(DNAJC6):c.2107+11G>T
NM_001256864.2(DNAJC6):c.2107+8_2107+10del rs1199919797
NM_001256864.2(DNAJC6):c.210C>T (p.Asp70=)
NM_001256864.2(DNAJC6):c.2119A>G (p.Met707Val)
NM_001256864.2(DNAJC6):c.2130G>A (p.Lys710=)
NM_001256864.2(DNAJC6):c.2205T>G (p.Pro735=)
NM_001256864.2(DNAJC6):c.2228-17T>A rs2101634939
NM_001256864.2(DNAJC6):c.2235T>C (p.Ser745=)
NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile) rs2101635055
NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)
NM_001256864.2(DNAJC6):c.2351C>T (p.Ala784Val)
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter) rs2101635253
NM_001256864.2(DNAJC6):c.2370A>C (p.Pro790=)
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) rs398122405
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter) rs1646073230
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs) rs2101635447
NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro) rs201984806
NM_001256864.2(DNAJC6):c.2476G>A (p.Gly826Arg)
NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) rs886039854
NM_001256864.2(DNAJC6):c.2553C>G (p.His851Gln)
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
NM_001256864.2(DNAJC6):c.2594A>G (p.Lys865Arg)
NM_001256864.2(DNAJC6):c.2634+18C>T
NM_001256864.2(DNAJC6):c.2643A>G (p.Glu881=)
NM_001256864.2(DNAJC6):c.2689A>T (p.Met897Leu)
NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp) rs201708707
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.2790C>T (p.Val930=)
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=) rs764156036
NM_001256864.2(DNAJC6):c.2846T>C (p.Met949Thr)
NM_001256864.2(DNAJC6):c.32C>T (p.Thr11Ile) rs2101357416
NM_001256864.2(DNAJC6):c.344+12C>T
NM_001256864.2(DNAJC6):c.344+6C>T
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) rs864622011
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter) rs1219237924
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=) rs2101558882
NM_001256864.2(DNAJC6):c.542G>A (p.Arg181Gln)
NM_001256864.2(DNAJC6):c.543+10T>G
NM_001256864.2(DNAJC6):c.544-20C>T
NM_001256864.2(DNAJC6):c.666+10C>G rs373591833
NM_001256864.2(DNAJC6):c.666+1G>A
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs) rs1645848679
NM_001256864.2(DNAJC6):c.700G>A (p.Ala234Thr)
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=) rs2101597985
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter) rs745630837
NM_001256864.2(DNAJC6):c.789A>T (p.Pro263=)
NM_001256864.2(DNAJC6):c.79G>T (p.Asp27Tyr)
NM_001256864.2(DNAJC6):c.801-14A>C rs758557034
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001256864.2(DNAJC6):c.809G>A (p.Gly270Asp) rs1645865223
NM_001256864.2(DNAJC6):c.839C>T (p.Pro280Leu) rs774319050
NM_001256864.2(DNAJC6):c.83T>C (p.Leu28Ser)
NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)
NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)
NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg) rs1436860964
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_001256864.2(DNAJC6):c.995+16T>C rs1254823370
NM_001256864.2(DNAJC6):c.996-14G>T
NM_001256864.2(DNAJC6):c.996-15G>T

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