ClinVar Miner

List of variants reported as likely pathogenic by SIB Swiss Institute of Bioinformatics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) rs1566580253
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000125.3(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_001005273.2(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.2(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.2(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001006657.2(WDR35):c.1433G>A (p.Arg478Lys) rs1558342399
NM_001006657.2(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457
NM_001145112.1(PATL2):c.649T>A (p.Tyr217Asn) rs1361024832
NM_001145112.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001160036.2(RHOBTB2):c.1421C>G (p.Ala474Gly) rs1554504656
NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys) rs1563292586
NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001178010.2(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_001178010.2(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_001178010.2(CDC45):c.469C>T (p.Arg157Cys) rs540217942
NM_001178010.2(CDC45):c.773A>G (p.Asp258Gly) rs754080445
NM_001178010.2(CDC45):c.989C>T (p.Ala330Val) rs146559223
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) rs1555785715
NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) rs1555786156
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001291721.2(CYFIP2):c.208-1838G>C rs1554108163
NM_001291721.2(CYFIP2):c.208-1838G>T rs1554108163
NM_001314042.1(KDM5B):c.1003C>T (p.Arg335Ter) rs1558498928
NM_001314042.1(KDM5B):c.4217T>G (p.Leu1406Ter) rs1558478047
NM_001330283.1(PATL2):c.-173C>T rs548527219
NM_001330283.1(PATL2):c.-2T>G rs1156737044
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) rs1554763770
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003944.4(SELENBP1):c.1039G>T (p.Gly347Ter) rs1553204817
NM_003944.4(SELENBP1):c.673G>T (p.Gly225Trp) rs758495626
NM_003944.4(SELENBP1):c.985C>T (p.His329Tyr) rs1553204840
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004315.6(ASAH1):c.155A>G (p.Tyr52Cys) rs137853595
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423
NM_004895.4(NLRP3):c.61G>C (p.Asp21His) rs200154873
NM_005518.3(HMGCS2):c.1499G>A (p.Arg500His) rs137852639
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006852.4(TLK2):c.1412A>G (p.His471Arg) rs1567974030
NM_006852.4(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_006852.4(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287
NM_006852.4(TLK2):c.1819G>A (p.Asp607Asn) rs1568006217
NM_006852.4(TLK2):c.1973C>G (p.Pro658Arg) rs1568018905
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp) rs1553721236
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014055.4(IFT81):c.87G>C (p.Leu29Phe) rs751222088
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014676.3(PUM1):c.3097A>T (p.Thr1033Ser) rs771145682
NM_014676.3(PUM1):c.3409C>T (p.Arg1137Trp) rs1557541619
NM_014676.3(PUM1):c.3433C>T (p.Arg1145Trp) rs1557539450
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) rs1565909334
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571
NM_015693.4(INTU):c.826C>T (p.Gln276Ter) rs373900644
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866
NM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser)
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018374.4(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_052873.3(IFT43):c.100G>A (p.Glu34Lys) rs140366557
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) rs1555369050
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152327.5(AK7):c.2018T>C (p.Leu673Pro) rs116298211
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170784.2(MKKS):c.119C>G (p.Ser40Ter) rs753338844
NM_172057.2(KCNH2):c.1490A>G (p.Asp497Gly) rs199473004
NM_181742.3(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_199074.1(NDUFAF3):c.323C>T (p.Ala108Val)
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212482.3(FN1):c.778T>G (p.Cys260Gly) rs1553658926
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.1261C>T (p.Gln421Ter) rs1554930314
NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249

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