ClinVar Miner

List of variants reported as benign for idiopathic disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 420
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=) rs7685117 0.99715
NM_006206.6(PDGFRA):c.*1511C>A rs1565664 0.99713
NM_006206.6(PDGFRA):c.*78A>G rs7680422 0.99696
NM_006206.6(PDGFRA):c.*2387T>G rs10034498 0.98684
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503 0.98009
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_012120.3(CD2AP):c.-54T>A rs9349406 0.96104
NM_012120.3(CD2AP):c.*2339T>C rs2152796 0.94798
NM_014625.4(NPHS2):c.102A>G (p.Gly34=) rs1079292 0.94555
NM_014625.4(NPHS2):c.*157G>A rs1410590 0.90674
NM_014625.4(NPHS2):c.*428A>G rs1060775 0.90386
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_006129.4(BMP1):c.-170A>G rs111596355 0.79635
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_006749.5(SLC20A2):c.-305G>A rs2923444 0.68776
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.-93A>G rs10849447 0.66126
NM_012120.3(CD2AP):c.*2039T>C rs1043276 0.61813
NM_014625.4(NPHS2):c.*54G>C rs1410591 0.61732
NM_014625.4(NPHS2):c.954C>T (p.Ala318=) rs1410592 0.61660
NM_012120.3(CD2AP):c.-192A>C rs1056434 0.57692
NM_022489.4(INF2):c.*536G>T rs1128880 0.45873
NM_024426.6(WT1):c.*602A>G rs5030320 0.45163
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_016341.4(PLCE1):c.-558A>G rs2911857 0.41925
NM_016341.4(PLCE1):c.810T>C (p.Cys270=) rs17109671 0.40626
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_001317778.2(SFTPC):c.*123G>A rs7592 0.35835
NM_004621.6(TRPC6):c.*553T>G rs7931399 0.32661
NM_016341.4(PLCE1):c.960G>A (p.Glu320=) rs17109674 0.32407
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=) rs12366144 0.31538
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) rs3765524 0.31528
NM_016341.4(PLCE1):c.-135G>A rs10882386 0.31428
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) rs2274223 0.31202
NM_016341.4(PLCE1):c.5035+12C>A rs3736901 0.28787
NM_001317778.2(SFTPC):c.436-26C>G rs2070687 0.28233
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_001317778.2(SFTPC):c.*174G>A rs1139547 0.26088
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) rs1124 0.25849
NM_012120.3(CD2AP):c.*2759G>A rs719856 0.24576
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_014625.4(NPHS2):c.*258A>G rs2274622 0.23380
NM_004621.6(TRPC6):c.-361A>T rs41302375 0.23298
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_004621.6(TRPC6):c.-218C>T rs56134796 0.20345
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_001257180.2(SLC20A2):c.*1057C>G rs6841 0.20257
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_012120.3(CD2AP):c.*500A>G rs35361796 0.19036
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=) rs2229307 0.17867
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) rs4358459 0.17704
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) rs10028020 0.17498
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_012120.3(CD2AP):c.*502A>G rs35274349 0.17025
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_014625.4(NPHS2):c.*200G>A rs2274623 0.16200
NM_022489.4(INF2):c.*437G>A rs1128866 0.16086
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) rs17417407 0.15541
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=) rs72984209 0.15473
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_016341.4(PLCE1):c.*28A>G rs3203713 0.13805
NM_016341.4(PLCE1):c.5458+7G>A rs17516758 0.13792
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_016341.4(PLCE1):c.6324C>G (p.Val2108=) rs942676 0.12398
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_022489.4(INF2):c.-85G>A rs141884370 0.09252
NM_001257180.2(SLC20A2):c.*570G>T rs1803657 0.09069
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=) rs12805398 0.08831
NM_004621.6(TRPC6):c.-254C>G rs3824934 0.08690
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) rs36111323 0.08144
NM_001257180.2(SLC20A2):c.*361A>G rs3763510 0.07343
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser) rs3802829 0.07029
NM_022489.4(INF2):c.2775+15C>T rs73347508 0.06749
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_016341.4(PLCE1):c.*166G>C rs11187870 0.06391
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06370
NM_014625.4(NPHS2):c.-52C>G rs78541594 0.06302
NM_022489.4(INF2):c.-10G>A rs115602636 0.05904
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser) rs34251364 0.05864
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=) rs41291134 0.05210
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) rs61743044 0.04384
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_006206.6(PDGFRA):c.932-4A>G rs78405886 0.03447
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455 0.03433
NM_024426.6(WT1):c.*820G>C rs1042347 0.03223
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617 0.03104
NM_016341.4(PLCE1):c.-525T>C rs75639609 0.03061
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492 0.02373
NM_006749.4(SLC20A2):c.-534A>T rs113755761 0.02320
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_022489.4(INF2):c.*553T>C rs115685078 0.01713
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_000619.3(IFNG):c.*180C>T rs2069722 0.01606
NM_001257180.2(SLC20A2):c.*380C>T rs72643203 0.01547
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005 0.01396
NM_006206.6(PDGFRA):c.*1429C>T rs56288633 0.01364
NM_016341.4(PLCE1):c.*253C>T rs79412094 0.01314
NM_004621.6(TRPC6):c.-10C>A rs191383391 0.01276
NM_001257180.2(SLC20A2):c.290-13C>A rs114824268 0.01256
NM_000619.3(IFNG):c.*539A>G rs2069723 0.01255
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00975
NM_006206.6(PDGFRA):c.*2504C>T rs149631103 0.00967
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_004621.6(TRPC6):c.*530T>C rs112916171 0.00885
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_012120.3(CD2AP):c.219A>G (p.Glu73=) rs7749045 0.00843
NM_006749.4(SLC20A2):c.-592C>T rs145711927 0.00840
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_022489.4(INF2):c.1269A>C (p.Pro423=) rs750660584 0.00746
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=) rs56026726 0.00722
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_003018.3(SFTPC):c.-91C>T rs77253713 0.00704
NM_003018.3(SFTPC):c.-92C>G rs79647630 0.00682
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_004621.6(TRPC6):c.*970A>G rs146033736 0.00635
NM_001257180.2(SLC20A2):c.*113A>T rs115989387 0.00586
NM_001257180.2(SLC20A2):c.*112G>T rs114729286 0.00585
NM_022489.4(INF2):c.*10C>T rs142710295 0.00580
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00532
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_001317778.2(SFTPC):c.18+13G>A rs74515418 0.00511
NM_012120.3(CD2AP):c.*2241A>T rs151064033 0.00507
NM_006206.6(PDGFRA):c.*2559G>A rs138584193 0.00503
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975 0.00483
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_012120.3(CD2AP):c.-297G>C rs9369697 0.00441
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00429
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_016341.4(PLCE1):c.-246A>G rs139061122 0.00403
NM_001257180.2(SLC20A2):c.*263A>C rs145543019 0.00402
NM_012120.3(CD2AP):c.*186A>T rs9381582 0.00392
NM_004621.6(TRPC6):c.1338C>T (p.His446=) rs112258968 0.00391
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg) rs111929795 0.00359
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_012120.3(CD2AP):c.*2355G>A rs141029774 0.00301
NM_022489.4(INF2):c.*388A>G rs140513391 0.00296
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_022489.4(INF2):c.*544G>A rs111978619 0.00287
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270 0.00272
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311 0.00242
NM_001257180.2(SLC20A2):c.*120C>G rs569568894 0.00235
NM_016341.4(PLCE1):c.3279+12T>C rs139184808 0.00232
NM_012120.3(CD2AP):c.809-11C>A rs76153148 0.00230
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=) rs114636687 0.00212
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) rs138816265 0.00210
NM_012120.3(CD2AP):c.*160A>G rs112547257 0.00209
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) rs142498442 0.00204
NM_012120.3(CD2AP):c.*828G>C rs187393492 0.00197
NM_004621.6(TRPC6):c.*9C>T rs187970274 0.00190
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_022489.4(INF2):c.*638G>A rs191976493 0.00182
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_022489.4(INF2):c.3694+13G>C rs776214809 0.00163
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_016341.4(PLCE1):c.6342+13G>A rs75283731 0.00129
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_001317778.2(SFTPC):c.228G>C (p.Pro76=) rs75413490 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_001038.6(SCNN1A):c.-55+2T>C rs772498945 0.00122
NM_001038.6(SCNN1A):c.*113C>T rs62620999 0.00121
NM_006206.5(PDGFRA):c.-284G>A rs145549583 0.00121
NM_006206.6(PDGFRA):c.*2336T>C rs574665425 0.00121
NM_012120.3(CD2AP):c.*1208C>A rs28403574 0.00119
NM_012120.3(CD2AP):c.1014A>G (p.Pro338=) rs150304098 0.00113
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_004621.6(TRPC6):c.*218C>T rs190606820 0.00103
NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) rs141881558 0.00098
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_006206.6(PDGFRA):c.*2538G>A rs377126983 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_006206.6(PDGFRA):c.*2873C>T rs147418921 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00083
NM_004621.6(TRPC6):c.*314C>G rs199583740 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_004621.6(TRPC6):c.*40T>G rs201285907 0.00082
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916 0.00082
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_006206.6(PDGFRA):c.*2546A>G rs112690644 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NM_012120.3(CD2AP):c.1530+12T>G rs201842906 0.00072
NM_001257180.2(SLC20A2):c.*926C>T rs575143642 0.00066
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_001257180.2(SLC20A2):c.290-5T>C rs371924916 0.00063
NM_022489.4(INF2):c.1329A>C (p.Pro443=) rs769756576 0.00062
NM_022489.4(INF2):c.*16C>T rs199912466 0.00058
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_022489.4(INF2):c.*136C>T rs150579444 0.00053
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058 0.00051
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_012120.3(CD2AP):c.-267G>A rs532229799 0.00049
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599 0.00046
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=) rs201793869 0.00044
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=) rs199935692 0.00033
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00033
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=) rs114218633 0.00031
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) rs140725151 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_001317778.2(SFTPC):c.*12T>A rs200469074 0.00027
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=) rs141545390 0.00026
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) rs142643033 0.00026
NM_006206.6(PDGFRA):c.*1561T>C rs145328998 0.00025
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_012120.3(CD2AP):c.165+13A>G rs368408367 0.00024
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814 0.00023
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_004621.6(TRPC6):c.2392G>C (p.Asp798His) rs201522744 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00020
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met) rs145970823 0.00019
NM_004621.6(TRPC6):c.75C>T (p.Arg25=) rs201051533 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) rs13306627 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) rs116068659 0.00016
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=) rs529959941 0.00012
NM_012120.3(CD2AP):c.*1918A>C rs576753032 0.00012
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser) rs767748953 0.00012
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465 0.00012
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) rs200039720 0.00011
NM_001317778.2(SFTPC):c.18+12G>A rs202194863 0.00011
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser) rs139330011 0.00011
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569 0.00011
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_001257180.2(SLC20A2):c.935-12A>C rs144236532 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_012120.3(CD2AP):c.*20C>G rs149303011 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) rs13306633 0.00006
NM_000336.3(SCNN1B):c.6C>T (p.His2=) rs564570566 0.00006
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) rs374264520 0.00006
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_004621.6(TRPC6):c.*337G>A rs144714163 0.00006
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met) rs200772226 0.00006
NM_006206.6(PDGFRA):c.*2465A>G rs78148538 0.00006
NM_012120.3(CD2AP):c.*1017T>A rs192279940 0.00006
NM_012120.3(CD2AP):c.1531-15T>A rs200506346 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066 0.00005
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=) rs370825102 0.00004
NM_004621.6(TRPC6):c.*13C>T rs200791047 0.00004
NM_004621.6(TRPC6):c.1677C>T (p.Asp559=) rs552837414 0.00004
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 0.00004
NM_006206.6(PDGFRA):c.*2256G>T rs544503522 0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser) rs570511925 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=) rs199804961 0.00002
NM_022489.4(INF2):c.*288C>T rs534561202 0.00002
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg) rs762096939 0.00002
NM_022489.4(INF2):c.1865G>A (p.Arg622Gln) rs200155666 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_004621.6(TRPC6):c.*336C>T rs199619303 0.00001
NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val) rs758348046 0.00001
NM_006206.6(PDGFRA):c.*793C>T rs557191329 0.00001
NM_016341.4(PLCE1):c.664G>C (p.Gly222Arg) rs373215088 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) rs146440372
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) rs146440372
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile) rs369823081
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=) rs75413490
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=) rs35457216
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln) rs75902455
NM_004621.6(TRPC6):c.*1089C>T rs117895343
NM_004621.6(TRPC6):c.-352C>G rs201260623
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_006129.4(BMP1):c.-277delG rs148697295
NM_006206.6(PDGFRA):c.*1110_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1137G>A rs55710909
NM_006206.6(PDGFRA):c.*374A>C rs3690
NM_006206.6(PDGFRA):c.-106AG[1] rs1799767
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) rs148629782
NM_012120.3(CD2AP):c.-441C>A rs111766401
NM_012120.3(CD2AP):c.-441C>G rs111766401
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) rs2274224
NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser) rs61732525
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_022489.4(INF2):c.*25A>G rs541048885
NM_022489.4(INF2):c.1275A>C (p.Pro425=) rs760828390
NM_022489.4(INF2):c.144C>T (p.Val48=) rs528508846
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) rs767351070
NM_022489.4(INF2):c.2517G>A (p.Glu839=) rs561061092
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*978dup rs5030326
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567

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