ClinVar Miner

Variants with conflicting interpretations "benign" and "pathogenic"

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

Total variants with conflicting interpretations: 421

HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046 0.99729
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_174936.4(PCSK9):c.1355-56C>T rs585131 0.83125
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_174936.4(PCSK9):c.-861G>A rs2479409 0.65476
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.58780
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met) rs237025 0.57192
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.55614
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54798
NM_000579.4(CCR5):c.-301+246A>G rs1799987 0.49151
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.45965
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.38644
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter) rs1815739 0.36260
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp) rs198977 0.29720
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_016358.3(IRX4):c.90A>C (p.Gly30=) rs2232374 0.24160
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21985
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20997
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) rs10065172 0.20755
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.16287
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15945
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NC_000003.12:g.124055231T>G rs9289231 0.14244
NM_016358.3(IRX4):c.1203G>A (p.Ala401=) rs1689717 0.12779
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.12108
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.09838
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09324
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07985
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001159387.2(B4GALNT2):c.954+5G>A rs72835417 0.07640
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.07628
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07295
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.07017
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_000616.5(CD4):c.793C>T (p.Arg265Trp) rs28919570 0.06389
NC_000008.11:g.11573132C>T rs61199332 0.06287
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.06273
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05989
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000579.4(CCR5):c.-229C>T rs41469351 0.05865
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) rs5110 0.05181
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014 0.04776
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_003356.4(UCP3):c.304G>A (p.Val102Ile) rs2229707 0.03989
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507 0.03433
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02972
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02882
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02634
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02529
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met) rs34315806 0.02416
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02279
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02278
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.01999
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01819
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01701
NG_012820.2(ANK1):g.104072G>A rs183894680 0.01664
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01627
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01619
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01316
NM_003102.4(SOD3):c.691C>G (p.Arg231Gly) rs1799895 0.01270
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) rs11591147 0.01227
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01221
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
UGT1A1*6 rs4148323 0.01140
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141 0.01139
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) rs28399976 0.01049
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.01007
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.00961
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00908
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00843
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00829
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00674
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00640
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00589
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00489
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NR_001566.3(TERC):n.228G>A rs141686314 0.00451
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00442
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_001715.3(BLK):c.*338T>G rs1042695 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277 0.00409
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00356
NM_001453.3(FOXC1):c.*734A>T rs35717904 0.00356
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00283
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00277
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288 0.00256
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002 0.00255
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00248
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00246
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_017986.4(SLC52A1):c.1134+11G>A rs141935493 0.00204
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00198
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00196
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_001171038.2(ASMT):c.562+2T>C rs148855515 0.00189
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00188
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00175
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00157
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00156
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00141
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) rs2303790 0.00102
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) rs121918530 0.00094
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00093
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00086
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00081
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_199161.5(SAA1):c.269G>A (p.Gly90Asp) rs79681911 0.00076
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00069
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00066
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00066
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00064
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00060
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00052
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00050
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00049
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00046
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00044
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00038
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00037
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00033
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00029
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00020
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00002
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp) rs767807136 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
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
Multiple alleles
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NC_000011.10:g.47332282_47332306del rs36212066
NC_012920.1(MT-ND1):m.3796A>G rs28357970
NC_012920.1(MT-TC):m.5814T>C rs200077222
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr) rs782430567
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_000797.4(DRD4):c.235_247del (p.Ala79fs) rs587776842
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del) rs527536363
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter) rs76555439
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004409.5(DMPK):c.*224CTG[32]
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11_Gly12insAla) rs193922941
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005577.4(LPA):c.4289+1G>A rs41272114
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del) rs727502780
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_018418.5(SPATA7):c.20_23delTCAG rs527236050
NM_022124.6(CDH23):c.4104+15del rs1839422034
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
Single allele
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.