ClinVar Miner

List of variants studied for hereditary dementia by OMIM

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 634
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HGVS dbSNP gnomAD frequency
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_012268.4(PLD3):c.694G>A (p.Val232Met) rs145999145 0.00365
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001110.4(ADAM10):c.510G>C (p.Gln170His) rs61751103 0.00149
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu) rs201191394 0.00029
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly) rs145518263 0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) rs143889283 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072 0.00004
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) rs372250159 0.00004
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) rs606231454 0.00003
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003793.4(CTSF):c.954del (p.Ser319fs) rs753084727 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_021219.4(JAM2):c.323G>A (p.Arg108His) rs1383641309 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) rs606231455 0.00002
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter) rs781261918 0.00002
NM_000146.4(FTL):c.286G>A (p.Ala96Thr) rs104894685 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His) rs142339351 0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys) rs137852966 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006 0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg) rs1466750124 0.00001
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter) rs397515631 0.00001
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) rs397509382 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_003085.5(SNCB):c.208G>A (p.Val70Met) rs104893936 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.616G>A (p.Gly206Ser) rs387906628 0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs) rs748984540 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) rs748112833 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) rs752212030 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) rs760451348 0.00001
NM_021219.4(JAM2):c.395-1dup rs751103286 0.00001
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser) rs267606940 0.00001
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) rs201486601 0.00001
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys) rs267606939 0.00001
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135 0.00001
NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter) rs761229686 0.00001
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) rs140709867 0.00001
NM_025233.7(COASY):c.641C>T (p.Ala214Val) rs1567904066 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) rs201987973 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
ARSA, 1-BP DEL, 297C
I655T
NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
NC_000001.10:g.6882372_7422115dup
NC_000001.10:g.7119268_7200395del
NC_000001.9:g.6777038_6826186del
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
NC_000005.10:g.(?_74640023)_(74705321_74713505)del
NC_000009.12:g.77390734_77428010del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_012920.1(MT-ND1):m.3397A>G rs199476120
NG_007094.1:g.(45669_45717)_(52301_52349)del
NG_008047.1:g.17267CAG[(54-68)]
NG_008165.1:g.12526CAR[46_?]
NG_008227.1:g.53130CAG[38_130]
NG_008317.3:g.245717TTC[250_?]
NG_008654.2:g.(13298_14630)_(15199_19425)del
NG_008654.2:g.(9848_10812)_(19800_19939)del
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NG_009770.3:g.48585_63669del
NG_021403.2:g.68486_68487insN[2500_3800]
NG_032161.2:g.(87059_102191)_(118197_128986)del
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) rs63750306
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) rs63750265
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) rs2148398995
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1864+5G>A rs768510247
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000146.4(FTL):c.458dup (p.His153fs) rs587776840
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) rs398124640
NM_000146.4(FTL):c.498_499dup (p.Phe167fs) rs1114167274
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val) rs78396650
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys) rs121908304
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val) rs121908314
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu) rs74598136
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) rs121908299
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000157.4(GBA1):c.73del (p.Leu25fs) rs397518433
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000157.4(GBA1):c.763T>G (p.Phe255Val) rs121908303
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) rs121908298
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) rs193922926
NM_000333.4:c.89ACG[7_17] rs193922929
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) rs104893875
NM_000391.4(TPP1):c.1146-199G>A
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2018C>T (p.Ala673Val) rs193922916
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile) rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000487.6(ARSA):c.1198TTC[1] (p.Phe401del) rs1569077723
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) rs74315485
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro) rs121434215
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del) rs797044434
NM_000521.4(HEXB):c.1082+5G>C rs5030731
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) rs1554037088
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs) rs387907328
NM_001029896.2(WDR45):c.434dup (p.Leu147fs) rs387907331
NM_001029896.2(WDR45):c.516G>C (p.Val172=) rs387907330
NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter) rs387907332
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001083601.3(NAA60):c.130C>T (p.Arg44Cys)
NM_001083601.3(NAA60):c.323_329del (p.Arg108fs)
NM_001083601.3(NAA60):c.338-1G>C
NM_001083601.3(NAA60):c.391C>T (p.His131Tyr)
NM_001083601.3(NAA60):c.428A>C (p.Asn143Thr)
NM_001083601.3(NAA60):c.50T>G (p.Leu17Arg)
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter) rs606231452
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001129729.3(PLEKHG4):c.-16C>T rs886041026
NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) rs199473691
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) rs397509391
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) rs1586022262
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) rs387906654
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) rs398122396
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) rs398122397
NM_001271604.4(JPH3):c.431CWG[41_?]
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs) rs1554317158
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys) rs1554274719
NM_001286611.2(REPS1):c.232G>C (p.Val78Leu) rs1554292444
NM_001364012.2:c.-164GGC[(66_517)]
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) rs63750129
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) rs63750376
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) rs63751438
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
NM_001377265.1(MAPT):c.2091+13A>G rs63750308
NM_001377265.1(MAPT):c.2091+14C>T rs63750972
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+1G>A rs1568327531
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) rs63750092
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) rs63750570
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) rs63750711
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) rs397514536
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) rs121912425
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) rs397515476
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) rs137852969
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) rs879253712
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro) rs137852964
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr) rs28939088
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
NM_002032.3(FTH1):c.487_490dup (p.Ser164Ter)
NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer)
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.154del (p.Thr52fs) rs63751092
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.4(GRN):c.3G>A (p.Met1Ile) rs63750331
NM_002087.4(GRN):c.709-1G>A rs2143337085
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.93_96dup (p.Asp33fs) rs606231220
NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val) rs397515326
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro) rs397515632
NM_002608.4(PDGFB):c.3G>A (p.Met1Ile) rs398122399
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter) rs397515633
NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr) rs398122398
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro) rs397509381
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) rs387906679
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.530_919del
NM_002778.4(PSAP):c.577-1G>T rs1589451049
NM_002778.4(PSAP):c.577-2A>G rs1589451050
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002778.4(PSAP):c.777+1915C>A rs759960679
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) rs1589448124
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter) rs387906864
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu) rs774631197
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.213+1G>C rs797045136
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser) rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004115.4(FGF14):c.487del (p.Arg163fs) rs587776685
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787
NM_004736.4(XPR1):c.407G>A (p.Ser136Asn) rs786205902
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro) rs786205903
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro) rs786205901
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser) rs786205904
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) rs121909669
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile) rs879253883
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu) rs104894700
NM_004993.6(ATXN3):c.892CAG[8_36] rs193922928
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser) rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) rs754446573
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs) rs2039704195
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?] rs1555779353
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) rs151344519
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006885.4:c.10519GGC[42-74]
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp) rs1941485201
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) rs387906790
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.283C>G (p.Arg95Gly) rs121909332
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) rs121909329
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) rs387906789
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) rs387906789
NM_007126.5(VCP):c.695C>A (p.Ala232Glu) rs121909331
NM_007289.4(MME):c.428G>A (p.Cys143Tyr) rs879255651
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg) rs80356731
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) rs267607102
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala) rs80356721
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys) rs80356727
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) rs769588220
NM_013254.4(TBK1):c.1340+1G>A rs767898276
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013254.4(TBK1):c.958del (p.Thr320fs) rs755950225
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs) rs2148504421
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly) rs2149303084
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer) rs1085307743
NM_015215.4(CAMTA1):c.838del (p.Ser280fs) rs1064796146
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs) rs886041999
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) rs2141141533
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1233del (p.Phe411fs) rs1563981857
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT rs1563982307
NM_021083.4(XK):c.1013del (p.Phe338fs) rs1602159120
NM_021083.4(XK):c.508+1G>A rs1602145991
NM_021083.4(XK):c.509-1G>A rs1602158863
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.938_951del (p.Asn313fs) rs2146834690
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer) rs1601038626
NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer) rs1601038704
NM_021219.4(JAM2):c.1A>G (p.Met1Val) rs1600978441
NM_021219.4(JAM2):c.504G>C (p.Trp168Cys) rs1230941179
NM_021219.4:c.(67+1_68-1)_(394+1_395-1)del
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) rs587777671
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) rs587777670
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs) rs2100817106
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) rs1131692036
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762
NM_025000.4(DCAF17):c.1091+6T>G rs1559289651
NM_025000.4(DCAF17):c.127-3_127-1delinsAA rs1574303761
NM_025000.4(DCAF17):c.1422+5G>T rs1314048356
NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter) rs760978794
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025000.4(DCAF17):c.50del (p.Ala17fs) rs1559245286
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) rs1600887859
NM_025233.7(COASY):c.175C>T (p.Gln59Ter) rs587777136
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val) rs397518452
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031448.6(C19orf12):c.194_204del (p.Met65fs) rs1599534394
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.232_233del (p.Met78fs) rs1599534276
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln) rs387907173
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_033109.5(PNPT1):c.2069+3A>G rs2104026165
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del) rs793888526
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
XK, 1-BP DEL

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