ClinVar Miner

Variants with conflicting interpretations "likely benign" from Athena Diagnostics Inc and "benign" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 514
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846 0.01721
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) rs190036021 0.01411
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00920
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450 0.00858
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083 0.00731
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00583
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180 0.00551
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326 0.00522
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr) rs114471872 0.00448
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096 0.00442
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001292063.2(OTOG):c.8035C>T (p.Arg2679Cys) rs567966154 0.00428
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794 0.00408
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114 0.00373
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys) rs201346452 0.00327
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_000085.5(CLCNKB):c.1409-6T>C rs115910575 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile) rs149752009 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) rs143339401 0.00298
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_001128228.3(TPRN):c.162C>A (p.Gly54=) rs562167855 0.00287
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_000079.4(CHRNA1):c.-8G>A rs138563328 0.00270
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg) rs13087457 0.00264
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=) rs116471335 0.00249
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_018075.5(ANO10):c.1915-5816C>A rs146629436 0.00245
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094 0.00240
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_006383.4(CIB2):c.462G>A (p.Glu154=) rs117153558 0.00236
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116 0.00217
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=) rs140963173 0.00217
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00212
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00208
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_002303.6(LEPR):c.1604-16T>C rs143936245 0.00202
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) rs189463989 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp) rs148377014 0.00150
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_002156.5(HSPD1):c.700+8C>T rs185384719 0.00143
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695 0.00132
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) rs151184052 0.00118
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050 0.00109
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384 0.00091
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00086
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049 0.00081
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00059
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00055
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala) rs141108624 0.00055
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00040
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841 0.00027
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser) rs772037564 0.00023
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) rs139546241 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro) rs752282314 0.00008
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_001037.5(SCN1B):c.448+8G>C rs200222933 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_018109.4(MTPAP):c.486C>T (p.Arg162=) rs150489876 0.00003
NM_145239.3(PRRT2):c.-30T>C rs202072359 0.00003
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=) rs768769972 0.00001
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_018075.5(ANO10):c.159A>G (p.Arg53=) rs533186096
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505

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