ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "benign"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 358

HGVS dbSNP
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000044.4(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000063.5(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000096.3(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000110.3(DPYD):c.85T>C (p.Cys29Arg) rs1801265
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000163.4(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000166.5(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000171.3(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000193.3(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000203.4(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000211.4(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.4(ITGB2):c.329-6C>T rs9983887
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000242.2(MBL2):c.170G>A (p.Gly57Glu) rs1800451
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000296.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000342.3(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.3(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000344.3(SMN1):c.840C>T (p.Phe280=)
NM_000348.3(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000359.2(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000369.2(TSHR):c.1637G>A (p.Trp546Ter) rs121908866
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000375.2(UROS):c.-219C>A rs4385801
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.35delT (p.Leu12Argfs) rs1060499841
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000403.3(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_000420.2(KEL):c.1790T>C (p.Leu597Pro) rs8176038
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000435.2(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000443.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000500.7(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000503.5(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000520.5(HEXA):c.672+30T>G rs117160567
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.3(HEXB):c.445+1G>C rs761197472
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000536.3(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) rs1169305
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000579.3(CCR5):c.-301+246A>G rs1799987
NM_000603.4(NOS3):c.894T>G (p.Asp298Glu) rs1799983
NM_000666.2(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000784.3(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_001001547.2(CD36):c.975T>G (p.Tyr325Ter) rs3211938
NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001023570.3(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528
NM_001031717.3(CRELD1):c.320G>A (p.Arg107His) rs28941780
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001038.5(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001039.3(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.3(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001042351.2(G6PD):c.1311T= (p.Tyr437=) rs2230037
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.3(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847
NM_001080463.1(DYNC2H1):c.3097-4A>G rs368802969
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.2(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001099274.2(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001104.3(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739
NM_001106.3(ACVR2B):c.119G>A (p.Arg40His) rs121434437
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) rs72664283
NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) rs72664287
NM_001171.5(ABCC6):c.3507-3C>T rs41278172
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313
NM_001171.5(ABCC6):c.487G>A (p.Asp163Asn) rs192110266
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001195129.1(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404
NM_001199107.1(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001202.5(BMP4):c.860G>A (p.Arg287His) rs121912768
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577
NM_001242896.1(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001282225.1(ADA2):c.1045G>A (p.Val349Ile) rs74317375
NM_001308.2(CPN1):c.533G>A (p.Gly178Asp) rs61751507
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946
NM_001456.3(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001492.5(GDF1):c.485G>A (p.Gly162Asp) rs121434424
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001715.2(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_001876.3(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_001876.3(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001918.3(DBT):c.1150G>A (p.Gly384Ser) rs12021720
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002052.4(GATA4):c.1220C>A (p.Pro407Gln) rs115099192
NM_002052.4(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002150.2(HPD):c.97G>A (p.Ala33Thr) rs1154510
NM_002283.3(KRT85):c.233G>A (p.Arg78His) rs61630004
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) rs6336
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002739.3(PRKCG):c.2075T>G (p.Val692Gly) rs78437096
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003126.3(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.3(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003356.3(UCP3):c.304G>A (p.Val102Ile) rs2229707
NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003597.4(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003688.3(CASK):c.2506-2A>T rs398122845
NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004006.2(DMD):c.7555G>A (p.Asp2519Asn) rs771877780
NM_004252.4(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004387.3(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004393.5(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004519.3(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004562.2(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004667.5(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587
NM_004937.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) rs1557135353
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005045.3(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005120.2(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005148.3(UNC119):c.65G>T (p.Gly22Val) rs199714731
NM_005259.2(MSTN):c.458A>G (p.Lys153Arg) rs1805086
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_005609.2(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006158.4(NEFL):c.1579_1581delGAG (p.Glu527del) rs3832558
NM_006269.1(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006610.3(MASP2):c.359A>G (p.Asp120Gly) rs72550870
NM_006891.3(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006894.5(FMO3):c.769G>A (p.Val257Met) rs1736557
NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_012082.3(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152
NM_012082.3(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_014049.5(ACAD9):c.-44_-41dup rs387906242
NM_014141.5(CNTNAP2):c.755-5C>T rs369675346
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464
NM_014236.3(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015488.4(PNKD):c.97G>C (p.Ala33Pro) rs121434513
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141
NM_016239.3(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) rs450046
NM_016373.3(WWOX):c.754C>G (p.Pro252Ala) rs75559202
NM_016616.4(NME8):c.271-27C>T rs117149381
NM_016725.2(FOLR1):c.493+2T>C rs144637717
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_018127.6(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739
NM_018127.6(ELAC2):c.1865A>T (p.Glu622Val) rs119484087
NM_018127.6(ELAC2):c.650C>T (p.Ser217Leu) rs4792311
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020361.4(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020632.2(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020975.4(RET):c.341G>A (p.Arg114His) rs76397662
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022367.3(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022437.2(ABCG8):c.55G>C (p.Asp19His) rs11887534
NM_022912.2(REEP1):c.*43G>T rs377637314
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024729.3(MYH14):c.1126G>T (p.Gly376Cys) rs119103280
NM_025216.2(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_030582.3(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032601.3(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033118.3(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033409.3(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_052845.3(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080916.2(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144991.2(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152778.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) rs114280473
NM_153427.2(PITX2):c.*454C>T rs6533526
NM_153676.3(USH1C):c.496+59_479-35GAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[7]GAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[2] rs55983148
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_173076.2(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070
NM_174936.3(PCSK9):c.-861G>A rs2479409
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_175053.3(KRT74):c.821T>C (p.Phe274Ser) rs147962513
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_182925.4(FLT4):c.2860C>T (p.Pro954Ser) rs34255532
NM_197947.2(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344
NM_207352.3(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NR_001566.1(TERC):n.228G>A rs141686314
NR_001566.1(TERC):n.58G>A rs113487931
UCP3, IVS6, G-A, +1
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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