ClinVar Miner

List of variants reported as benign by Pars Genome Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93354
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_001369.3(DNAH5):c.36T>G (p.His12Gln) rs339445 0.92715
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_182760.4(SUMF1):c.602+50G>A rs711666 0.90409
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.738+36G>A rs12516456 0.80304
NM_174878.3(CLRN1):c.254-1924T>A rs6764540 0.79708
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000487.6(ARSA):c.1108-32C>T rs762673 0.74934
NM_001369.3(DNAH5):c.277+118A>G rs12659700 0.74880
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_022132.5(MCCC2):c.1575-64A>G rs7443786 0.69711
NM_002076.4(GNS):c.793-68G>C rs1690277 0.68800
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_182760.4(SUMF1):c.841-75C>T rs813811 0.66935
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_001369.3(DNAH5):c.11761+93G>T rs6554808 0.60670
NM_001369.3(DNAH5):c.11762-45T>C rs3777093 0.60391
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.58164
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.58162
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_001369.3(DNAH5):c.11570+35A>G rs3734109 0.57196
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_001369.3(DNAH5):c.13724-35T>A rs2166337 0.55064
NM_174878.3(CLRN1):c.254-1947A>G rs6801898 0.54588
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54587
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val) rs3734110 0.53284
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=) rs1445823 0.53068
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52782
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu) rs4701997 0.50396
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=) rs7703349 0.48933
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=) rs3734111 0.48605
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_001369.3(DNAH5):c.13491+66T>C rs3734112 0.45951
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val) rs30168 0.44440
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_001369.3(DNAH5):c.1320+269T>A rs12654693 0.43546
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=) rs3213936 0.43495
NM_001369.3(DNAH5):c.1320+73T>C rs13179761 0.43433
NM_001369.3(DNAH5):c.1198-24C>A rs13180591 0.43394
NM_001369.3(DNAH5):c.1198-45A>G rs13162553 0.43382
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_001369.3(DNAH5):c.3397-51T>C rs10513159 0.42101
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_022132.5(MCCC2):c.803+71C>T rs277981 0.41735
NM_022132.5(MCCC2):c.739-92G>A rs277980 0.41731
NM_001369.3(DNAH5):c.6687+110A>G rs10035657 0.41445
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_001369.3(DNAH5):c.192+14C>G rs1530497 0.41173
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_001369.3(DNAH5):c.5710-58G>A rs9312849 0.40656
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=) rs10041113 0.40226
NM_001369.3(DNAH5):c.5115-5T>C rs4429853 0.40224
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=) rs1348689 0.40167
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=) rs30169 0.40053
NM_001369.3(DNAH5):c.6444+11C>T rs1348691 0.39914
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu) rs1530496 0.39883
NM_001369.3(DNAH5):c.6842-78C>T rs6889720 0.39778
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001369.3(DNAH5):c.4054-59T>C rs11748811 0.39508
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=) rs6554827 0.39500
NM_001369.3(DNAH5):c.4796+41G>A rs7704417 0.39490
NM_001369.3(DNAH5):c.4796+57A>C rs7724453 0.39443
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_001369.3(DNAH5):c.4053+64G>A rs1445810 0.39405
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_001369.3(DNAH5):c.12910-11C>T rs30175 0.39090
NM_000158.4(GBE1):c.-57G>A rs2290081 0.38912
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_001369.3(DNAH5):c.5114+11T>C rs6554820 0.37240
NM_000255.4(MMUT):c.1083+57C>T rs7769646 0.37023
NM_001369.3(DNAH5):c.4796+264A>C rs7724087 0.36921
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001369.3(DNAH5):c.4797-29C>A rs1502043 0.36619
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=) rs2401809 0.34838
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34771
NM_004453.4(ETFDH):c.973-104A>C rs7679753 0.34747
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala) rs1530498 0.34505
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_001369.3(DNAH5):c.5272-39T>A rs1910089 0.34183
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_001369.3(DNAH5):c.5114+22A>T rs4701988 0.33456
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=) rs6554812 0.30832
NM_001369.3(DNAH5):c.10102-29C>T rs6554813 0.30675
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1333-185A>G rs4715130 0.30091
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_172250.3(MMAA):c.734-74G>A rs11721510 0.28813
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27419
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_001369.3(DNAH5):c.3175-34G>A rs13170062 0.26940
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=) rs10057007 0.25350
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe) rs10513155 0.23716
NM_001369.3(DNAH5):c.7230+32A>G rs56046501 0.23667
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_000282.4(PCCA):c.106-93G>A rs2184382 0.22830
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_001369.3(DNAH5):c.975+30A>C rs35925547 0.22429
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_152618.3(BBS12):c.-10-41A>T rs309368 0.21057
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_000255.4(MMUT):c.912-110C>T rs9369901 0.20713
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg) rs10078391 0.20605
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_174878.3(CLRN1):c.254-2294A>C rs11914988 0.20293
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000277.3(PAH):c.509+101A>C rs10860933 0.18689
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17578
NM_000282.4(PCCA):c.414+88A>G rs9585365 0.16939
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000282.4(PCCA):c.468+51G>A rs35055557 0.16099
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.297+63A>C rs4769246 0.14951
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_001369.3(DNAH5):c.4053+32C>T rs13156044 0.12402
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_000282.4(PCCA):c.1846-104C>G rs1283292 0.12185
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_001369.3(DNAH5):c.12034-24T>C rs17203442 0.11146
NM_000231.3(SGCG):c.386-30A>G rs66844808 0.10864
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_001369.3(DNAH5):c.3834+40C>T rs35621834 0.10565
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala) rs2277046 0.09802
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_153717.3(EVC):c.618-121G>A rs75063475 0.09118
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_000231.3(SGCG):c.505+83G>T rs17374896 0.08156
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_000925.4(PDHB):c.701-41G>A rs4585221 0.06991
NM_001369.3(DNAH5):c.13491+37A>G rs10069041 0.06931
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06739
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_174878.3(CLRN1):c.433+1105C>T rs16846663 0.03733
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=) rs61744054 0.02551
NM_001369.3(DNAH5):c.8449-12T>C rs111313933 0.02531
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) rs52814161 0.01066
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_001369.3(DNAH5):c.2053-23A>C rs114717951 0.00416
NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys) rs113717209 0.00402
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001098816.3(TENM4):c.5287G>A (p.Gly1763Arg) rs201995608 0.00041
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_001369.3(DNAH5):c.799-11C>T rs371868451 0.00001
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.912-138C>T rs9395492
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_001011658.4(TRAPPC2):c.308A>G (p.Tyr103Cys)
NM_001356.5(DDX3X):c.42G>C (p.Gln14His) rs2147332861
NM_001369.3(DNAH5):c.1198-68C>T rs13180613
NM_001369.3(DNAH5):c.4797-93C>A rs1867677
NM_001369.3(DNAH5):c.5115-49G>C rs10041099
NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del)
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser) rs141612135
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_022132.5(MCCC2):c.-117A>G rs11746722
NM_022132.5(MCCC2):c.1488+103G>C rs169406
NM_022132.5(MCCC2):c.1488+113G>A rs182191
NM_022132.5(MCCC2):c.1489-111T>G rs6888301
NM_022132.5(MCCC2):c.1574+73G>A rs2242372
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_201589.4(MAFA):c.796G>T (p.Gly266Cys)

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