ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely benign" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 282
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
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_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031 0.01605
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_001160372.4(TRAPPC9):c.1982-20A>C rs74414386 0.01477
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_000637.5(GSR):c.334-5T>A rs28641651 0.00920
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00872
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
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_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg) rs36060670 0.00280
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe) rs115271229 0.00207
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) rs200823016 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001205254.2(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878

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.