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: 470
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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.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000090.3(COL3A1):c.145C>G (p.Pro49Ala) rs1234344050
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000125.3(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.5(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.452C>G (p.Thr151Arg) rs28936383
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000330.3(RS1):c.590G>A (p.Arg197His) rs281865355
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000409.4(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_000409.4(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_000409.5(GUCA1A):c.256G>C (p.Gly86Arg)
NM_000409.5(GUCA1A):c.295T>A (p.Tyr99Asn)
NM_000409.5(GUCA1A):c.296A>C (p.Tyr99Ser)
NM_000409.5(GUCA1A):c.299A>G (p.Asp100Gly)
NM_000409.5(GUCA1A):c.300T>A (p.Asp100Glu)
NM_000409.5(GUCA1A):c.312C>A (p.Asn104Lys)
NM_000409.5(GUCA1A):c.332A>T (p.Glu111Val)
NM_000409.5(GUCA1A):c.431A>G (p.Asp144Gly)
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000540.3(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_001005271.3(CHD3):c.2834A>G (p.His945Arg) rs1567855081
NM_001005271.3(CHD3):c.4202G>A (p.Arg1401Gln) rs1567863732
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.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.5642G>T (p.Arg1881Leu) rs1567877108
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)
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) rs775061512
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp) rs1557541619
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) rs888630930
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)
NM_001083619.3(GRIA2):c.1819C>G (p.Gln607Glu)
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg)
NM_001083619.3(GRIA2):c.1831G>A rs1553956958
NM_001083619.3(GRIA2):c.1915G>T rs1579377564
NM_001083619.3(GRIA2):c.1932C>A (p.Phe644Leu)
NM_001083619.3(GRIA2):c.1937C>A (p.Thr646Asn)
NM_001083619.3(GRIA2):c.2363G>T (p.Trp788Leu)
NM_001083619.3(GRIA2):c.2375G>T (p.Gly792Val)
NM_001083619.3(GRIA2):c.2420C>T (p.Ala807Val)
NM_001083619.3(GRIA2):c.2435A>G (p.Asn812Ser)
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)
NM_001083619.3(GRIA2):c.967C>T (p.Arg323Ter)
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val)
NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.3(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
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.478C>T (p.Arg160Ter) rs548527219
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_001164811.2(PET117):c.172C>T (p.Gln58Ter)
NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) rs137852639
NM_001166107.1(HMGCS2):c.560-633G>A rs137852638
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779
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_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
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_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_001330283.1(PATL2):c.-2T>G rs1156737044
NM_001353345.2(SETD1B):c.386T>G (p.Val129Gly)
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)
NM_001378974.1(FBXW11):c.1156G>A (p.Ala386Thr)
NM_001378974.1(FBXW11):c.1393G>A (p.Glu465Lys)
NM_001378974.1(FBXW11):c.1403G>A (p.Arg468Gln)
NM_001378974.1(FBXW11):c.1403G>T (p.Arg468Leu)
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) rs772370243
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) rs1057524366
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) rs1553383467
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) rs1572542511
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) rs267607260
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) rs1572555080
NM_002470.4(MYH3):c.782C>T (p.Ser261Phe) rs1597490381
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_002576.4(PAK1):c.1286A>G (p.Tyr429Cys) rs1565583382
NM_002576.4(PAK1):c.392A>G (p.Tyr131Cys) rs1565638316
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.366G>C (p.Gln122His) rs764595667
NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys) rs1580637688
NM_002715.4(PPP2CA):c.391G>C (p.Asp131His) rs1580637673
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter) rs148071386
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002715.4(PPP2CA):c.668A>T (p.Asp223Val) rs1580636665
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003043.5(SLC6A6):c.1196G>T (p.Gly399Val)
NM_003043.5(SLC6A6):c.233C>A (p.Ala78Glu)
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003301.6(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.6(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
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) rs1339709390
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) rs1280845604
NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp) rs1367958450
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) rs1558211070
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414
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_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter) rs1566982116
NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter) rs779567692
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_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) rs1566863801
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) rs745372938
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) rs1566843321
NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_004321.7(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_004321.7(KIF1A):c.499C>T (p.Arg167Cys) rs672601365
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)
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_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005852.4(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
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_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928
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_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
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_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
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) rs766053952
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_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_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) rs1567198751
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015133.5(MAPK8IP3):c.79G>T (p.Glu27Ter) rs1479142047
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
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_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000
NM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017589.4(BTG4):c.166G>A (p.Ala56Thr)
NM_017589.4(BTG4):c.73C>T (p.Gln25Ter)
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_017951.4(SMPD4):c.199C>T (p.Gln67Ter) rs1573728266
NM_017951.4(SMPD4):c.370G>T (p.Glu124Ter)
NM_017951.4(SMPD4):c.692T>C (p.Leu231Pro)
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018371.4(CSGALNACT1):c.1151C>G (p.Pro384Arg)
NM_018371.4(CSGALNACT1):c.1294G>T (p.Asp432Tyr)
NM_018371.5(CSGALNACT1):c.791A>G (p.Asn264Ser)
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) rs1327315227
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) rs755916513
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) rs1586190048
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018848.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844
NM_018965.3(TREM2):c.132G>A (p.Trp44Ter) rs104894001
NM_018965.3(TREM2):c.233G>A (p.Trp78Ter) rs104893998
NM_018965.3(TREM2):c.377T>G (p.Val126Gly) rs121908402
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020702.5(MYORG):c.103A>G (p.Met35Val) rs765483979
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter) rs868530644
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter) rs1588003652
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
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) rs780889226
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) rs746341112
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
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_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
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_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543
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_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_153486.3(LDHD):c.1122G>T (p.Trp374Cys) rs1567502487
NM_153486.3(LDHD):c.1388C>T (p.Thr463Met) rs764877688
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_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val) rs138275059
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(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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