ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 604
Download table as spreadsheet
HGVS dbSNP
NM_000116.3(TAZ):c.-120delT
NM_000116.5(TAZ):c.*165T>A
NM_000116.5(TAZ):c.*33G>A
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.*396C>T rs144283894
NM_000116.5(TAZ):c.*470= rs743547
NM_000116.5(TAZ):c.*560G>A rs782808430
NM_000116.5(TAZ):c.*618A>G
NM_000116.5(TAZ):c.*648A>C
NM_000116.5(TAZ):c.-88G>C rs113130344
NM_000116.5(TAZ):c.270G>A (p.Leu90=)
NM_000116.5(TAZ):c.351G>A (p.Lys117=)
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.49T>C (p.Trp17Arg)
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAZ):c.646+14C>T rs191527230
NM_000116.5(TAZ):c.647-6C>T
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*177C>G rs886046860
NM_001081.3(CUBN):c.*195T>C rs886046859
NM_001081.3(CUBN):c.*203C>T rs769041830
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*281A>G rs886046858
NM_001081.3(CUBN):c.*297C>T rs886046857
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*329C>G rs376727720
NM_001081.3(CUBN):c.*329C>T rs376727720
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*373G>T rs780298022
NM_001081.3(CUBN):c.*416G>A rs886046856
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.*436C>A rs574512019
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*470T>C rs886046855
NM_001081.3(CUBN):c.*514T>G rs886046854
NM_001081.3(CUBN):c.*560C>T rs45565931
NM_001081.3(CUBN):c.*564G>C rs184284227
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*734A>G rs751683958
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*782G>A rs570478432
NM_001081.3(CUBN):c.*786T>C rs886046853
NM_001081.3(CUBN):c.*794A>G rs886046852
NM_001081.3(CUBN):c.*81C>A rs886046861
NM_001081.3(CUBN):c.*883G>A rs886046851
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.-35G>C rs376502722
NM_001081.3(CUBN):c.-42G>T rs751905101
NM_001081.3(CUBN):c.-50G>A rs370711661
NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726
NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10181-14A>G rs886046864
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689
NM_001081.3(CUBN):c.1653C>T (p.Ser551=) rs372499101
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2013A>G (p.Pro671=) rs137892259
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2110+10C>G rs752409034
NM_001081.3(CUBN):c.2120G>A (p.Arg707His) rs763524933
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2446+11A>G rs372125740
NM_001081.3(CUBN):c.2447-15T>A rs886046877
NM_001081.3(CUBN):c.2483G>A (p.Arg828His) rs199527884
NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) rs775423928
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2610A>G (p.Glu870=) rs143471343
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308
NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) rs199763912
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291
NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) rs751110627
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.489+14T>C rs886046882
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) rs886046874
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) rs376536525
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) rs181991723
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.3(CUBN):c.5967G>C (p.Val1989=) rs139153235
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) rs376122892
NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870
NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) rs200593316
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.735C>T (p.Cys245=) rs766772944
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.736G>A (p.Val246Ile) rs760990753
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) rs748416223
NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) rs3740165
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7797C>T (p.Cys2599=) rs138758085
NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) rs535261179
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) rs146035059
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506
NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939
NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) rs139990077
NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072
NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) rs749545791
NM_001081.3(CUBN):c.8599-8C>T rs199774490
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509
NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240
NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) rs576867280
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) rs200124646
NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) rs199499934
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) rs200457480
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9664-9T>G rs145383974
NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) rs141513734
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001081.4(CUBN):c.*15G>A
NM_001081.4(CUBN):c.*267A>T
NM_001081.4(CUBN):c.*298G>A
NM_001081.4(CUBN):c.*304G>T
NM_001081.4(CUBN):c.*330G>A
NM_001081.4(CUBN):c.*380T>C
NM_001081.4(CUBN):c.*446A>G
NM_001081.4(CUBN):c.*453A>G
NM_001081.4(CUBN):c.*460C>A
NM_001081.4(CUBN):c.*597A>C
NM_001081.4(CUBN):c.*669C>T
NM_001081.4(CUBN):c.*769G>A
NM_001081.4(CUBN):c.*872T>C
NM_001081.4(CUBN):c.*940A>G
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.348+10A>G
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
NM_001081.4(CUBN):c.388-3C>T
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
NM_001081.4(CUBN):c.5343-11C>T
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
NM_001081.4(CUBN):c.7706-4T>C rs374979108
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.1004G>A (p.Arg335His) rs529693736
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.*175G>A
NM_001698.3(AUH):c.*200A>G
NM_001698.3(AUH):c.*237G>A
NM_001698.3(AUH):c.*60G>A
NM_001698.3(AUH):c.381A>G rs146227896
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_025136.4(OPA3):c.*1018A>G
NM_025136.4(OPA3):c.*1052C>T
NM_025136.4(OPA3):c.*1063G>A
NM_025136.4(OPA3):c.*1070C>T
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1091C>G rs557691359
NM_025136.4(OPA3):c.*1095C>A rs148228876
NM_025136.4(OPA3):c.*1193A>G
NM_025136.4(OPA3):c.*1213C>T rs539298843
NM_025136.4(OPA3):c.*1214G>A
NM_025136.4(OPA3):c.*1238G>A rs187216413
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*1340C>T rs12104391
NM_025136.4(OPA3):c.*1387C>T rs73568986
NM_025136.4(OPA3):c.*1462C>T
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1496C>T
NM_025136.4(OPA3):c.*152G>A rs3826861
NM_025136.4(OPA3):c.*1614C>T
NM_025136.4(OPA3):c.*1642A>G rs144894771
NM_025136.4(OPA3):c.*1693C>T
NM_025136.4(OPA3):c.*1760C>T rs75401979
NM_025136.4(OPA3):c.*1761A>T
NM_025136.4(OPA3):c.*1799A>G rs886054530
NM_025136.4(OPA3):c.*1836C>T rs74717111
NM_025136.4(OPA3):c.*1855T>C rs146599259
NM_025136.4(OPA3):c.*1863T>G rs769185702
NM_025136.4(OPA3):c.*1950G>A rs4404183
NM_025136.4(OPA3):c.*2008C>T rs144432336
NM_025136.4(OPA3):c.*2041C>G
NM_025136.4(OPA3):c.*2089T>C rs886054529
NM_025136.4(OPA3):c.*2101A>T rs139606810
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2188G>A
NM_025136.4(OPA3):c.*2198C>T
NM_025136.4(OPA3):c.*2469G>A rs115566341
NM_025136.4(OPA3):c.*2485G>A rs8106584
NM_025136.4(OPA3):c.*2490C>T rs11671670
NM_025136.4(OPA3):c.*2518A>G rs565012397
NM_025136.4(OPA3):c.*2545G>A rs886054528
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2620C>A
NM_025136.4(OPA3):c.*2662G>A
NM_025136.4(OPA3):c.*2696C>G rs148705681
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2714C>T rs781539538
NM_025136.4(OPA3):c.*2726G>C
NM_025136.4(OPA3):c.*272G>A rs7246349
NM_025136.4(OPA3):c.*2859A>T
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3038G>A rs73568982
NM_025136.4(OPA3):c.*3111_*3113AGC[3] rs542311224
NM_025136.4(OPA3):c.*3117C>T rs569595277
NM_025136.4(OPA3):c.*3128C>G
NM_025136.4(OPA3):c.*3156G>T
NM_025136.4(OPA3):c.*3212G>A rs79317386
NM_025136.4(OPA3):c.*3222C>T rs73568980
NM_025136.4(OPA3):c.*322A>G rs886054539
NM_025136.4(OPA3):c.*3245C>T
NM_025136.4(OPA3):c.*324_*325GT[1] rs571672143
NM_025136.4(OPA3):c.*3278C>T rs770317628
NM_025136.4(OPA3):c.*3295C>G
NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*3350T>G
NM_025136.4(OPA3):c.*3358C>G
NM_025136.4(OPA3):c.*3360G>A rs545764728
NM_025136.4(OPA3):c.*3387G>A rs3760844
NM_025136.4(OPA3):c.*3442A>G
NM_025136.4(OPA3):c.*3472G>A
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3531G>T rs112899014
NM_025136.4(OPA3):c.*3570C>T
NM_025136.4(OPA3):c.*3581C>T rs576070088
NM_025136.4(OPA3):c.*362T>C rs73942919
NM_025136.4(OPA3):c.*3644C>T
NM_025136.4(OPA3):c.*3669G>T
NM_025136.4(OPA3):c.*3722G>A rs73568973
NM_025136.4(OPA3):c.*3754C>T
NM_025136.4(OPA3):c.*3755G>A rs555830952
NM_025136.4(OPA3):c.*3804G>A
NM_025136.4(OPA3):c.*3845C>T rs886054525
NM_025136.4(OPA3):c.*3874G>A rs62109650
NM_025136.4(OPA3):c.*3878A>G rs79660166
NM_025136.4(OPA3):c.*3884G>A rs187028696
NM_025136.4(OPA3):c.*3891C>T rs752997579
NM_025136.4(OPA3):c.*3972C>T rs147972697
NM_025136.4(OPA3):c.*398G>T rs183851663
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4132_*4136CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*420A>G rs868102539
NM_025136.4(OPA3):c.*422C>T rs116977551
NM_025136.4(OPA3):c.*4233G>A
NM_025136.4(OPA3):c.*4241C>T
NM_025136.4(OPA3):c.*4318T>C rs4802261
NM_025136.4(OPA3):c.*4372G>A
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4439C>T rs538388889
NM_025136.4(OPA3):c.*4464G>T rs886054522
NM_025136.4(OPA3):c.*4521G>A rs886054521
NM_025136.4(OPA3):c.*4585C>T rs886054520
NM_025136.4(OPA3):c.*4586G>A rs886054519
NM_025136.4(OPA3):c.*4618G>A
NM_025136.4(OPA3):c.*4672G>A rs11669246
NM_025136.4(OPA3):c.*4696_*4699ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696_*4699ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4763C>A
NM_025136.4(OPA3):c.*4771C>G
NM_025136.4(OPA3):c.*4773A>G
NM_025136.4(OPA3):c.*4794C>T rs114917731
NM_025136.4(OPA3):c.*4846A>T
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4853T>A rs886054516
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4919_*4921del rs886054514
NM_025136.4(OPA3):c.*4949G>A rs544881797
NM_025136.4(OPA3):c.*4954C>T rs146646433
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T
NM_025136.4(OPA3):c.*5013A>G
NM_025136.4(OPA3):c.*5045C>T
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*5258A>G rs886054512
NM_025136.4(OPA3):c.*5277G>A
NM_025136.4(OPA3):c.*5357G>A rs549141863
NM_025136.4(OPA3):c.*540G>T
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5496C>T rs886054511
NM_025136.4(OPA3):c.*5510G>A
NM_025136.4(OPA3):c.*5523G>A rs57585727
NM_025136.4(OPA3):c.*5525C>T rs117230006
NM_025136.4(OPA3):c.*5565C>T
NM_025136.4(OPA3):c.*5570C>T
NM_025136.4(OPA3):c.*5597C>T rs560019290
NM_025136.4(OPA3):c.*5644A>G
NM_025136.4(OPA3):c.*5660A>G
NM_025136.4(OPA3):c.*5730C>T
NM_025136.4(OPA3):c.*5739C>T rs375835737
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*577T>C rs112654759
NM_025136.4(OPA3):c.*5783G>A rs550679720
NM_025136.4(OPA3):c.*5873C>T rs886054509
NM_025136.4(OPA3):c.*5888C>T rs886054508
NM_025136.4(OPA3):c.*5905G>A rs116705343
NM_025136.4(OPA3):c.*5923G>A
NM_025136.4(OPA3):c.*5944G>A rs190885103
NM_025136.4(OPA3):c.*6012A>G rs11083772
NM_025136.4(OPA3):c.*6046G>A
NM_025136.4(OPA3):c.*6072A>G rs576104602
NM_025136.4(OPA3):c.*6101A>G
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6124C>T
NM_025136.4(OPA3):c.*6125G>A rs780617440
NM_025136.4(OPA3):c.*6208C>T rs139798464
NM_025136.4(OPA3):c.*6275T>C rs74689727
NM_025136.4(OPA3):c.*6278G>A rs886054507
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6294A>C rs114655581
NM_025136.4(OPA3):c.*6361G>A
NM_025136.4(OPA3):c.*638T>A rs150575877
NM_025136.4(OPA3):c.*6394G>A rs151030695
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506
NM_025136.4(OPA3):c.*6442A>G rs76825983
NM_025136.4(OPA3):c.*6461C>T rs886054505
NM_025136.4(OPA3):c.*649C>T rs886054537
NM_025136.4(OPA3):c.*6554G>A
NM_025136.4(OPA3):c.*6570G>C rs773109015
NM_025136.4(OPA3):c.*6626G>A
NM_025136.4(OPA3):c.*6674T>C rs534603782
NM_025136.4(OPA3):c.*6688G>A rs181576269
NM_025136.4(OPA3):c.*6698G>T
NM_025136.4(OPA3):c.*6766C>T
NM_025136.4(OPA3):c.*6767G>A rs142898530
NM_025136.4(OPA3):c.*6773G>T rs886054504
NM_025136.4(OPA3):c.*677C>T rs560749495
NM_025136.4(OPA3):c.*6790T>C rs10422253
NM_025136.4(OPA3):c.*6902G>A rs528812143
NM_025136.4(OPA3):c.*690G>T
NM_025136.4(OPA3):c.*698G>A
NM_025136.4(OPA3):c.*7015G>A rs112948303
NM_025136.4(OPA3):c.*7018G>C
NM_025136.4(OPA3):c.*7072A>T
NM_025136.4(OPA3):c.*7085A>G rs67373144
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*7181G>A rs74253369
NM_025136.4(OPA3):c.*7183G>A
NM_025136.4(OPA3):c.*742A>T
NM_025136.4(OPA3):c.*761C>T
NM_025136.4(OPA3):c.*80G>T rs540023428
NM_025136.4(OPA3):c.*821A>T rs886054536
NM_025136.4(OPA3):c.*922G>T rs886054535
NM_025136.4(OPA3):c.*964G>A
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
NM_145261.4(DNAJC19):c.*188G>A rs1051411
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*212C>T rs190670376
NM_145261.4(DNAJC19):c.*325T>C rs886058202
NM_145261.4(DNAJC19):c.*365T>C rs143458718
NM_145261.4(DNAJC19):c.*441G>A rs1805635
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*516A>G rs762130203
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_145261.4(DNAJC19):c.*645A>C rs146964003
NM_145261.4(DNAJC19):c.*692T>C rs555888288
NM_145261.4(DNAJC19):c.-121C>T rs886058205
NM_145261.4(DNAJC19):c.-29G>T rs181271620
NM_145261.4(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.4(DNAJC19):c.129+15A>C rs201697391
NM_145261.4(DNAJC19):c.281-12T>C rs141982712

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