ClinVar Miner

List of variants reported as benign for not specified by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_001374353.1(GLI2):c.457+70G>A rs11681136 0.93205
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_000517.4(HBA2):c.*136A>G rs2685121 0.86184
NM_000546.6(TP53):c.376-91G>A rs2909430 0.83528
NM_000546.6(TP53):c.672+62A>G rs1625895 0.83418
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_005529.7(HSPG2):c.11993-151A>G rs7518070 0.76960
NM_145861.4(EDARADD):c.61+123G>A rs966364 0.75130
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.65316
NM_000088.4(COL1A1):c.1669-31T>C rs1007086 0.64557
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_002296.4(LBR):c.-14-54G>A rs1340867 0.62460
NM_001022.4(RPS19):c.-1+36= rs930102 0.57140
NM_000053.4(ATP7B):c.4021+50G>C rs9535795 0.56559
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_000431.4(MVK):c.79-164T>G rs6606734 0.55050
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_002626.6(PFKL):c.366C>T (p.Leu122=) rs1057034 0.48477
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000251.3(MSH2):c.1759+183G>A rs3764960 0.42227
NM_000251.3(MSH2):c.1759+107A>G rs3764959 0.41882
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NC_000013.11:g.52011857G>A rs9563084 0.40278
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000138.5(FBN1):c.4942+570T>C rs10519177 0.34873
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
NM_000059.4(BRCA2):c.6937+847T>G rs9567576 0.28751
NM_004006.3(DMD):c.6614+26G>T rs3761604 0.28231
NM_147127.5(EVC2):c.451-52G>A rs35705473 0.26495
NM_002626.6(PFKL):c.747+7G>A rs61750224 0.26251
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_018062.4(FANCL):c.375-2014T>C rs12475594 0.22541
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_144997.7(FLCN):c.1433-38A>G rs34235236 0.21634
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_020975.6(RET):c.2608-24G>A rs2472737 0.20380
NM_001018115.3(FANCD2):c.696-138C>T rs35220123 0.20233
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.19533
NM_000142.5(FGFR3):c.930+72C>G rs2305184 0.19439
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000053.4(ATP7B):c.1870-65G>A rs9535809 0.18440
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997 0.16789
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_153717.3(EVC):c.174+31G>C rs2276874 0.14512
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000431.4(MVK):c.78+61A>G rs61940512 0.13119
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_000431.4(MVK):c.885+24G>A rs2270374 0.12332
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_000071.3(CBS):c.829-60C>T rs12329764 0.12196
NM_000179.3(MSH6):c.628-56C>T rs1800936 0.11629
NM_007272.3(CTRC):c.356+71G>A rs3765373 0.11168
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_004168.4(SDHA):c.896-32G>A rs7725241 0.10356
NM_004168.4(SDHA):c.456+32G>A rs35464369 0.10345
NM_000071.3(CBS):c.829-88G>A rs55767206 0.10093
NM_000059.4(BRCA2):c.8755-272A>G rs4942485 0.09303
NM_004006.3(DMD):c.1704+51T>C rs5927082 0.09293
NM_001127511.3(APC):c.-31T>G rs78429131 0.09154
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_002626.6(PFKL):c.710A>T (p.Asp237Val) rs1057037 0.08391
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_004006.3(DMD):c.8669-75C>G rs17338583 0.06936
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_001457.4(FLNB):c.2055+274del rs35415261 0.06556
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_005529.7(HSPG2):c.9710-65G>A rs74060191 0.05742
NM_001018.5(RPS15):c.63C>T (p.Asp21=) rs7251165 0.05357
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_001844.5(COL2A1):c.4318-91C>T rs61048429 0.05196
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_000552.5(VWF):c.3539-33G>A rs148995386 0.04652
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_005529.7(HSPG2):c.7446+96G>A rs113035731 0.04046
NM_005529.7(HSPG2):c.10355+85G>T rs35423650 0.03833
NM_170707.4(LMNA):c.1968+26A>G rs80264244 0.03826
NM_000088.4(COL1A1):c.696+54G>A rs73987447 0.03766
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000208.4(INSR):c.2231+20C>A rs6413502 0.03725
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_000179.3(MSH6):c.261-36A>G rs1800931 0.03614
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226 0.03114
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_000208.4(INSR):c.1123+21G>A rs13306458 0.03006
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_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_000208.4(INSR):c.1610+23C>T rs9676400 0.02818
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_000138.5(FBN1):c.6617-21A>T rs363823 0.02754
NM_000302.4(PLOD1):c.168+79C>T rs744754 0.02651
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001844.5(COL2A1):c.3597+62C>T rs73297147 0.02515
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_004612.4(TGFBR1):c.805+39A>G rs11568778 0.02404
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_001114753.3(ENG):c.991+58A>T rs12002508 0.01910
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_005529.7(HSPG2):c.3794-78A>T rs60060959 0.01893
NM_001114753.3(ENG):c.360+21C>T rs41355248 0.01861
NM_004006.3(DMD):c.4072-389G>T rs16990318 0.01812
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_001114753.3(ENG):c.1311+94A>G rs41335948 0.01761
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_001377.3(DYNC2H1):c.10327-53A>G rs116174151 0.01569
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_147127.5(EVC2):c.2707-66C>T rs112863054 0.01258
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.01018
NM_001042492.3(NF1):c.1846-39C>T rs17885830 0.01017
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_004239.4(TRIP11):c.5160+59A>G rs117502191 0.00901
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=) rs74032923 0.00884
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000208.4(INSR):c.3259-31C>T rs148813626 0.00848
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_005529.7(HSPG2):c.8165-93G>A rs77375768 0.00829
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_006446.5(SLCO1B1):c.1747+9A>G rs71577817 0.00741
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_000218.3(KCNQ1):c.387-17G>A rs28730661 0.00702
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_007217.4(PDCD10):c.-116-9T>C rs146858915 0.00636
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_001148.6(ANK2):c.1881+8C>G rs74976371 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_005629.4(SLC6A8):c.1255-31C>T rs193175235 0.00580
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_000059.4(BRCA2):c.9257-113T>G rs191553604 0.00449
NM_025132.4(WDR19):c.3115-47T>C rs75158432 0.00449
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001369369.1(FOXN1):c.1710G>A (p.Ser570=) rs143371127 0.00399
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_004006.3(DMD):c.5448+148G>T rs72468625 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=) rs78245030 0.00330
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_005529.7(HSPG2):c.703+22C>T rs185397994 0.00321
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00308
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_000552.5(VWF):c.3109-30C>T rs535850523 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_020779.4(WDR35):c.1470+131T>A rs192330354 0.00277
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_001084.5(PLOD3):c.110-153T>C rs184771174 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496 0.00255
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_001148.6(ANK2):c.11860-18T>G rs138978479 0.00207
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000093.5(COL5A1):c.2700+38G>A rs373636275 0.00199
NM_001377229.1(DISP1):c.414G>A (p.Thr138=) rs143316612 0.00196
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_000168.6(GLI3):c.1243-40A>C rs77659679 0.00163
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_001204.7(BMPR2):c.622-35A>T rs147197594 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_000459.5(TEK):c.3090G>A (p.Glu1030=) rs56133834 0.00121
NM_003322.6(TULP1):c.99+18G>A rs144077749 0.00121
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=) rs144082858 0.00106
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000089.4(COL1A2):c.3712-80C>T rs114796185 0.00095
NM_173495.3(PTCHD1):c.1013-12C>G rs200934310 0.00095
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_004006.3(DMD):c.6290+30957A>C rs759078487 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_001360016.2(G6PD):c.120+3617T>C rs368857323 0.00058
NM_005428.4(VAV1):c.738T>C (p.Val246=) rs61761611 0.00057
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val) rs139449198 0.00053
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_001042492.3(NF1):c.7615+24del rs754290122 0.00050
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_000326.5(RLBP1):c.795+15C>T rs181863443 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000051.4(ATM):c.6808-22C>A rs3218700 0.00036
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_000441.2(SLC26A4):c.1614+8C>T rs370184422 0.00032
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001457.4(FLNB):c.7198+20C>G rs201580886 0.00019
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00018
NM_005428.4(VAV1):c.1536C>T (p.Thr512=) rs200254050 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000314.8(PTEN):c.493-42A>G rs765083317 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140 0.00012
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_000314.8(PTEN):c.253+66A>G rs377719086 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_007294.4(BRCA1):c.-19-10T>C rs201866997 0.00007
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_001009944.3(PKD1):c.10220+33G>A rs755957931 0.00006
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00006
NM_001009944.3(PKD1):c.7490-19C>T rs767603290 0.00006
NM_001355436.2(SPTB):c.1791G>A (p.Gly597=) rs200814169 0.00006
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=) rs370847174 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_000059.4(BRCA2):c.426-37T>A rs81002859 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_000179.3(MSH6):c.260+10T>G rs193922342 0.00004
NM_001142864.4(PIEZO1):c.2329+11C>T rs1313856152 0.00004
NM_001931.5(DLAT):c.381+5G>T rs552793 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000090.4(COL3A1):c.3363+21G>C rs376559659 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001360016.2(G6PD):c.486-29G>T rs370403856 0.00003
NM_002474.3(MYH11):c.444C>T (p.His148=) rs569925780 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330 0.00002
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678 0.00002
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) rs1324926264 0.00002
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455 0.00002
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001204.7(BMPR2):c.*621G>A rs1303164094 0.00001
NM_001386125.1(OBSCN):c.8631C>T (p.Pro2877=) rs781325246 0.00001
NM_002626.6(PFKL):c.1863G>A (p.Arg621=) rs539532679 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_194454.3(KRIT1):c.262+68A>G rs1554536465 0.00001
NM_000020.3(ACVRL1):c.625+110_625+125del rs1555152839
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000132.4(F8):c.5374-19del rs782086610
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000208.4(INSR):c.2842+33G>A rs35169098
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000245.4(MET):c.1528-39_1528-38delinsAT rs1554391208
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000431.4(MVK):c.677+12del rs774948892
NM_000465.4(BARD1):c.216-9A>T rs759575504
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000517.6(HBA2):c.237C>G (p.Asn79Lys) rs281860607
NM_000546.6(TP53):c.96+41_97-54del rs59758982
NM_000637.5(GSR):c.334-5del rs74518074
NM_000637.5(GSR):c.334-6_334-5del rs74518074
NM_001009944.3(PKD1):c.11713-29T>A rs1555445308
NM_001009944.3(PKD1):c.11713-31C>T rs1318395645
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=) rs1555445055
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=) rs1356967038
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=) rs1342647727
NM_001018.5(RPS15):c.140G>C (p.Arg47Pro) rs201657403
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.61-14del rs376172637
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6148-28del rs398100472
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.7457+21A>G rs17881641
NM_001042492.3(NF1):c.8161-34del rs528599051
NM_001042492.3(NF1):c.889-25_889-21del rs17881173
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001142864.4(PIEZO1):c.64+12G>T rs1207737714
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002890.3(RASA1):c.1454-7del rs60835976
NM_002890.3(RASA1):c.2691-17del rs368117332
NM_003001.5(SDHC):c.406-8G>T rs747093483
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004333.6(BRAF):c.2128-4G>T rs956143558
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006912.6(RIT1):c.163+7C>T rs1553229454
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+36_441+50del rs1168113546
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_014251.3(SLC25A13):c.848+28del rs11335226
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_016038.4(SBDS):c.129-160T>G rs368334049
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.5894+32C>G rs41265252
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022489.4(INF2):c.1274C>T (p.Pro425Leu) rs1555374270
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.3072G>A (p.Gln1024=) rs1279994496
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_033380.3(COL4A5):c.1032+17del rs761615270
NR_001566.1(TERC):n.514A>G rs2293607

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