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: 338
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HGVS dbSNP
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000335.4(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_000335.4(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.4092_4094GAA[2] (p.Lys1367del) rs574569798
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000445.5(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) rs4151030
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) rs28926182
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000709.4(BCKDHA):c.484+5G>A rs149899007
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001205254.2(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001301365.1(LYST):c.6122-13del rs201404906
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360
NM_001367624.1(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001367624.1(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769
NM_001367624.1(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001983.4(ERCC1):c.843+32G>A rs116640350
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002529.3(NTRK1):c.710C>T (p.Thr237Met) rs55909005
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645
NM_003859.2(DPM1):c.679-7_679-6insT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTT rs11480415
NM_004006.2(DMD):c.2143A>T (p.Thr715Ser) rs16998350
NM_004006.2(DMD):c.2623-11C>G rs1028360
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488
NM_004525.3(LRP2):c.11759-5T>G rs76488092
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605
NM_004895.4(NLRP3):c.1026C>T (p.Pro342=) rs41311573
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.4589-8T>G rs362801
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013
NM_006019.4(TCIRG1):c.2279_2284TGGGCC[3] (p.760_761LG[3]) rs199973759
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006261.4(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser) rs35533773
NM_006371.4(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006941.3(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006949.4(STXBP2):c.*12G>A rs28464386
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198
NM_012330.4(KAT6B):c.4079_4087AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_013275.6(ANKRD11):c.744+18C>G rs147328392
NM_013995.2(LAMP2):c.1171G>A (p.Val391Ile) rs144140265
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395
NM_014191.4(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014324.6(AMACR):c.*753T>G rs140021599
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678
NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) rs116690692
NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) rs113845886
NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) rs73733791
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018965.3(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212
NM_020191.3(MRPS22):c.283A>C (p.Ile95Leu) rs73866065
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser) rs34786733
NM_020732.3(ARID1B):c.342_344GCA[8] (p.Gln131dup) rs587779743
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021150.4(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024996.5(GFM1):c.476A>G (p.Asn159Ser) rs34297061
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.4(RAI1):c.834_836GCA[10] (p.Gln289_Gln291del) rs371983878
NM_031407.7(HUWE1):c.5716+5G>A rs139135300
NM_031407.7(HUWE1):c.6031-4T>A rs139283158
NM_031475.3(ESPN):c.1709C>T (p.Pro570Leu) rs527968078
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_080424.2(SP110):c.1100C>T (p.Thr367Met) rs59573011
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_139025.4(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_145046.4(CALR3):c.850G>A (p.Asp284Asn) rs10404156
NM_145207.3(SPATA5):c.2485G>T (p.Asp829Tyr) rs35206443
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) rs117576908
NM_153767.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407
NM_173076.3(ABCA12):c.1649A>G (p.Glu550Gly) rs16853149
NM_173076.3(ABCA12):c.821A>G (p.Gln274Arg) rs11890468
NM_173076.3(ABCA12):c.859C>G (p.Arg287Gly) rs11891778
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067
NM_199242.2(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116
NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114
NM_203447.3(DOCK8):c.952G>A (p.Ala318Thr) rs35482838
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253

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