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: 431

HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046 0.99713
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_174936.3(PCSK9):c.-861G>A rs2479409 0.65880
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
NM_000579.4(CCR5):c.-301+246A>G rs1799987 0.48765
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
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_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NC_000017.11:g.34252769A>G rs1024611 0.27904
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.6531-12C>T rs28525570 0.25447
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_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566 0.20869
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
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_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
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_001159387.2(B4GALNT2):c.954+5G>A rs72835417 0.07909
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
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_000579.4(CCR5):c.-229C>T rs41469351 0.06264
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) rs5110 0.05327
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
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_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_003356.4(UCP3):c.304G>A (p.Val102Ile) rs2229707 0.03989
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
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 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02714
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 0.02339
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
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_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
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_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_001393392.1(AKR1C2):c.666T>C (p.His222=) rs13222 0.01890
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559 0.01765
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01739
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01697
NM_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 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_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
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_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
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
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_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
UGT1A1*6 rs4148323 0.00891
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
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_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
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_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
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_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
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_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
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_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
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_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
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_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys) rs121908982 0.00314
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_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
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_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
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_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00229
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00224
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
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_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
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_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00161
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
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_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) rs121918530 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 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_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 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_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00068
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) rs2303790 0.00066
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
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_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00038
NM_005915.6(MCM6):c.2428T>C (p.Tyr810His) rs55660827 0.00036
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
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_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
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_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 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.1966C>A (p.His656Asn) rs762815611 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3
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
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
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_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) rs71245621
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
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.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
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_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)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
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_001276270.2(MBD4):c.939del (p.Glu314fs)
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_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
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_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_006883.2(SHOX):c.-512C>A rs113313554
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter) rs766542823
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_018418.4(SPATA7):c.20_23del 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_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
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.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
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
m.3308T>C rs28358582
m.3796A>G rs28357970
m.4336T>C rs41456348
m.5814T>C rs200077222

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.