ClinVar Miner

List of variants reported as benign for classic organic aciduria by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 372
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HGVS dbSNP
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.238+17C>T
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.778-63_778-51del
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.61-17C>T rs56913973
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.654+20T>C rs3821445
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1502-11_1502-9del
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.667-12C>T rs72817437
NM_001243279.3(ACSF3):c.667-13T>C rs139367843
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977
NM_001258392.3(CLPB):c.1122+16T>C rs187846751
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.404-16C>T rs371250603
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1893-6C>T rs139904712
NM_001352514.2(HLCS):c.1960+16T>A rs73398135
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126
NM_001352514.2(HLCS):c.2451-19C>T rs78671947
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.494-13A>G rs76785742
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001372123.1(IKZF5):c.-280C>T
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788
NM_001698.2(AUH):c.135G>A (p.Ala45=) rs774989333
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.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.235-18G>A rs78272986
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.551-18C>T rs142064071
NM_002225.5(IVD):c.597C>T (p.Gly199=)
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023
NM_005050.4(ABCD4):c.1028+6G>T rs115783644
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157
NM_005050.4(ABCD4):c.1560-12A>C rs74061802
NM_005050.4(ABCD4):c.1636+10C>T rs74061801
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.1752+5C>T rs370270229
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370
NM_005050.4(ABCD4):c.668+7C>T rs61757464
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005050.4(ABCD4):c.669-13T>G rs144451801
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.815-13G>C rs74063815
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512
NM_005334.3(HCFC1):c.5379+20G>A
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.438+9A>T rs201813923
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989
NM_014362.4(HIBCH):c.517+15T>A rs291417
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841
NM_014384.2(ACAD8):c.1195+12C>T rs75333832
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.210+6C>T rs148089913
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) rs36115758
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.562+18T>A rs183663902
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.980+11T>C rs114726590
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.874-12dup rs755494348
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.282-7G>A rs115078899
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062
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.537A>G (p.Lys179=) rs140105522
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.120T>C (p.Gly40=) rs373053776
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255
NM_032861.4(SERAC1):c.1016-11C>T rs41269577
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641
NM_032861.4(SERAC1):c.1308+17C>A
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453
NM_032861.4(SERAC1):c.1403+12G>A rs117813106
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274
NM_032861.4(SERAC1):c.355+11A>G rs9356399
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105
NM_032861.4(SERAC1):c.487+19C>T
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699
NM_032861.4(SERAC1):c.739-10T>G rs118093738
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.349-17T>C rs72650187
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_145261.4(DNAJC19):c.210-7T>A rs779367415
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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