ClinVar Miner

List of variants reported as likely benign for not specified by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 711
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_130811.4(SNAP25):c.-9A>G rs41306792 0.01318
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_004782.4(SNAP29):c.-5G>A rs139884576 0.01122
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
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_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
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_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
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_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys) rs61998220 0.00468
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_021942.6(TRAPPC11):c.2461G>A (p.Ala821Thr) rs114471872 0.00448
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_018723.4(RBFOX1):c.-229C>G rs144510926 0.00395
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
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_000085.5(CLCNKB):c.1409-6T>C rs115910575 0.00312
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257 0.00301
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) rs143339401 0.00298
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_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
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_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
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_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_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_002303.6(LEPR):c.1604-16T>C rs143936245 0.00202
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) rs147989825 0.00180
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
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_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00165
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00155
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_201384.3(PLEC):c.1824C>T (p.Ser608=) rs201927593 0.00144
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_005529.7(HSPG2):c.8156G>A (p.Ser2719Asn) rs139042516 0.00138
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr) rs72654321 0.00135
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr) rs139163400 0.00130
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014 0.00127
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr) rs149251662 0.00121
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) rs151184052 0.00118
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357 0.00107
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_005045.4(RELN):c.5880A>G (p.Thr1960=) rs362793 0.00105
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=) rs143686889 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 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.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_201378.4(PLEC):c.71-11599T>C rs201910266 0.00096
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_004408.4(DNM1):c.1782-9A>G rs201739236 0.00090
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_153766.3(KCNJ1):c.-21-2121G>A rs147611594 0.00089
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00078
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_001379500.1(COL18A1):c.2158-9C>T rs200143450 0.00074
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_020247.5(COQ8A):c.240C>T (p.His80=) rs113667144 0.00068
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_002087.3(GRN):c.-45C>G rs563336550 0.00057
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 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_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_001079802.2(FKTN):c.285T>C (p.His95=) rs148046151 0.00050
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile) rs528790143 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
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_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=) rs201064766 0.00045
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_016630.7(SPG21):c.846G>A (p.Ala282=) rs146986015 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_015346.4(ZFYVE26):c.5654-10C>G rs183559101 0.00043
NM_000726.5(CACNB4):c.64-238T>G rs369342902 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
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_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn) rs142406714 0.00041
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00040
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg) rs546054742 0.00036
NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=) rs374326288 0.00035
NM_000815.5(GABRD):c.470+6C>T rs202225187 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_001178015.2(SLC4A10):c.2652T>C (p.His884=) rs373234260 0.00030
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser) rs146137419 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=) rs141883657 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_014846.4(WASHC5):c.-9C>T rs187822596 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00028
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) rs369467841 0.00027
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser) rs145985140 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) rs201994402 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val) rs200437744 0.00023
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) rs144559574 0.00021
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=) rs372767405 0.00021
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_005912.3(MC4R):c.837C>T (p.Cys279=) rs145765578 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001379500.1(COL18A1):c.295C>T (p.Arg99Trp) rs199918230 0.00020
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_000156.6(GAMT):c.328-10C>T rs371511930 0.00019
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) rs754817283 0.00019
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) rs140209609 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_020247.5(COQ8A):c.1332C>T (p.Thr444=) rs138727410 0.00019
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193 0.00019
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val) rs150801133 0.00018
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg) rs372953250 0.00018
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) rs367645069 0.00017
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=) rs2575311 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=) rs201656750 0.00017
NM_001278064.2(GRM1):c.3426G>T (p.Ser1142=) rs147521426 0.00017
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val) rs201917832 0.00017
NM_018109.4(MTPAP):c.1313-3C>T rs201064853 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_000209.4(PDX1):c.210G>T (p.Val70=) rs748725637 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln) rs761660130 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) rs56182751 0.00016
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_005045.4(RELN):c.2532G>A (p.Pro844=) rs113842330 0.00016
NM_007262.5(PARK7):c.410-9A>G rs143947415 0.00016
NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly) rs770209899 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser) rs373539744 0.00016
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe) rs189061273 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp) rs200595885 0.00015
NM_000756.4(CRH):c.123T>G (p.Pro41=) rs752420051 0.00015
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_173500.4(TTBK2):c.3258T>C (p.Pro1086=) rs772205818 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00014
NM_201384.3(PLEC):c.8727C>T (p.Thr2909=) rs370129235 0.00014
NM_001127222.2(CACNA1A):c.4388+8G>A rs376248243 0.00013
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln) rs149992317 0.00013
NM_018109.4(MTPAP):c.1011C>T (p.Ser337=) rs139195646 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001164508.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524 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_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000435.3(NOTCH3):c.5124C>T (p.Ala1708=) rs149766864 0.00011
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001267550.2(TTN):c.74701G>A (p.Val24901Ile) rs766110889 0.00011
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=) rs72648204 0.00011
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) rs200480185 0.00011
NM_006946.4(SPTBN2):c.5099G>A (p.Arg1700His) rs141457344 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg) rs373500080 0.00011
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00011
NM_198994.3(TGM6):c.1158C>T (p.His386=) rs371763464 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 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_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.18775A>G (p.Thr6259Ala) rs780049500 0.00010
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=) rs148994723 0.00010
NM_182961.4(SYNE1):c.7767C>T (p.His2589=) rs149165706 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845 0.00010
NM_198994.3(TGM6):c.743C>T (p.Pro248Leu) rs142013495 0.00010
NM_201384.3(PLEC):c.6084G>A (p.Ala2028=) rs528306324 0.00010
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=) rs368179321 0.00009
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) rs200209920 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_002775.5(HTRA1):c.165C>A (p.Gly55=) rs947247701 0.00009
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00009
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln) rs199422214 0.00009
NM_018847.4(KLHL9):c.1394G>A (p.Cys465Tyr) rs191333137 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) rs549363319 0.00008
NM_005529.7(HSPG2):c.201C>T (p.Asp67=) rs144919523 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp) rs140694378 0.00008
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) rs201681631 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784 0.00007
NM_001267550.2(TTN):c.25296C>T (p.Cys8432=) rs375720439 0.00007
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) rs201959970 0.00007
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_201384.3(PLEC):c.5037G>A (p.Ala1679=) rs782627006 0.00007
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=) rs775208731 0.00006
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu) rs150866973 0.00006
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00006
NM_001037.5(SCN1B):c.448+8G>C rs200222933 0.00006
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417 0.00006
NM_001042492.3(NF1):c.393A>C (p.Ala131=) rs761086521 0.00006
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) rs1188340576 0.00006
NM_001267550.2(TTN):c.46430-8C>T rs773395217 0.00006
NM_001267550.2(TTN):c.55059T>C (p.Asn18353=) rs553295928 0.00006
NM_001378452.1(ITPR1):c.3565-4C>T rs374122245 0.00006
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr) rs138454151 0.00006
NM_004172.5(SLC1A3):c.36G>A (p.Gly12=) rs752951426 0.00006
NM_005477.3(HCN4):c.2652C>T (p.Pro884=) rs373814254 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys) rs777790247 0.00006
NM_006946.4(SPTBN2):c.4450C>T (p.Leu1484=) rs139883853 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015915.5(ATL1):c.990+4T>A rs372029461 0.00006
NM_020247.5(COQ8A):c.741C>T (p.Ala247=) rs554280397 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His) rs370495535 0.00006
NM_173500.4(TTBK2):c.588C>T (p.Asn196=) rs531094726 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu) rs780891095 0.00005
NM_004070.4(CLCNKA):c.1939C>T (p.Leu647Phe) rs528421254 0.00005
NM_004977.3(KCNC3):c.1338C>T (p.Asn446=) rs140640214 0.00005
NM_005529.7(HSPG2):c.13026G>A (p.Thr4342=) rs151237224 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp) rs374049468 0.00005
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=) rs757245118 0.00005
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) rs772263007 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_201378.4(PLEC):c.71-12006C>T rs782759589 0.00005
NM_201384.3(PLEC):c.6918C>T (p.Ala2306=) rs782163766 0.00005
NM_000070.3(CAPN3):c.1308C>T (p.Gly436=) rs372968945 0.00004
NM_000371.4(TTR):c.375C>T (p.Tyr125=) rs749079577 0.00004
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_000435.3(NOTCH3):c.2296+8C>T rs375460301 0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=) rs759320715 0.00004
NM_001127222.2(CACNA1A):c.784+9A>G rs746215285 0.00004
NM_001164508.2(NEB):c.23199G>A (p.Pro7733=) rs775027154 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln) rs761993856 0.00004
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=) rs776272431 0.00004
NM_001278064.2(GRM1):c.1422C>T (p.Asp474=) rs371221115 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001458.5(FLNC):c.6702C>T (p.Phe2234=) rs370589662 0.00004
NM_001961.4(EEF2):c.2463C>T (p.Pro821=) rs371674983 0.00004
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys) rs749199519 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_005529.7(HSPG2):c.10143C>T (p.Leu3381=) rs577292003 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_006946.4(SPTBN2):c.5586C>T (p.Asp1862=) rs138346945 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927 0.00004
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=) rs763250825 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015346.4(ZFYVE26):c.6423G>A (p.Thr2141=) rs142448052 0.00004
NM_025137.4(SPG11):c.36C>T (p.Ser12=) rs368656047 0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00004
NM_181882.3(PRX):c.3768G>T (p.Val1256=) rs367862999 0.00004
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=) rs1022996215 0.00004
NM_182961.4(SYNE1):c.19848C>T (p.Ile6616=) rs148247543 0.00004
NM_198994.3(TGM6):c.1270A>C (p.Ile424Leu) rs745804281 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met) rs560752299 0.00003
NM_000435.3(NOTCH3):c.5265G>A (p.Leu1755=) rs1021237220 0.00003
NM_000451.4(SHOX):c.486+14G>A rs200795374 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) rs974692135 0.00003
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=) rs201991581 0.00003
NM_001136472.2(LITAF):c.240C>T (p.Tyr80=) rs149184234 0.00003
NM_001267550.2(TTN):c.27186T>G (p.Gly9062=) rs745874179 0.00003
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=) rs267603751 0.00003
NM_002693.3(POLG):c.1596C>T (p.Pro532=) rs199856571 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile) rs200973006 0.00003
NM_005881.4(BCKDK):c.654C>T (p.Val218=) rs368040635 0.00003
NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=) rs774837229 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 0.00003
NM_014363.6(SACS):c.11280G>A (p.Thr3760=) rs193116488 0.00003
NM_014363.6(SACS):c.5946A>G (p.Gly1982=) rs746358078 0.00003
NM_014363.6(SACS):c.789C>T (p.Asn263=) rs771920263 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_018075.5(ANO10):c.1401G>T (p.Val467=) rs149580265 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_170665.4(ATP2A2):c.2577C>T (p.Asp859=) rs139307921 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198994.3(TGM6):c.1527C>T (p.His509=) rs748042241 0.00003
NM_000089.4(COL1A2):c.280-8C>T rs371996944 0.00002
NM_000091.5(COL4A3):c.1131C>T (p.Pro377=) rs764659723 0.00002
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=) rs770123435 0.00002
NM_000726.5(CACNB4):c.681G>A (p.Pro227=) rs1405201747 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903 0.00002
NM_001267550.2(TTN):c.44157T>C (p.Asp14719=) rs760908766 0.00002
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=) rs762115057 0.00002
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) rs375679048 0.00002
NM_001378452.1(ITPR1):c.6300C>G (p.Ala2100=) rs974085034 0.00002
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002
NM_002693.3(POLG):c.3219G>A (p.Pro1073=) rs770800532 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_004172.5(SLC1A3):c.1069A>G (p.Ile357Val) rs532925070 0.00002
NM_004977.3(KCNC3):c.1065C>T (p.Cys355=) rs761297836 0.00002
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00002
NM_006946.4(SPTBN2):c.4405A>G (p.Lys1469Glu) rs772124555 0.00002
NM_006946.4(SPTBN2):c.5220C>T (p.Ser1740=) rs773962214 0.00002
NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=) rs774217655 0.00002
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994 0.00002
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136 0.00002
NM_014855.3(AP5Z1):c.744G>A (p.Ala248=) rs771896080 0.00002
NM_020919.4(ALS2):c.468G>A (p.Ala156=) rs145506395 0.00002
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=) rs758663546 0.00002
NM_170707.4(LMNA):c.1071C>T (p.Asp357=) rs376875762 0.00002
NM_173500.4(TTBK2):c.452G>A (p.Arg151His) rs375070421 0.00002
NM_201384.3(PLEC):c.12030C>T (p.Ala4010=) rs372023641 0.00002
NM_201384.3(PLEC):c.2547C>T (p.Ala849=) rs770364460 0.00002
NM_201384.3(PLEC):c.3141C>T (p.Ala1047=) rs782511217 0.00002
NM_201384.3(PLEC):c.6546G>A (p.Ala2182=) rs372009035 0.00002
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=) rs780229549 0.00001
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=) rs534552884 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000435.3(NOTCH3):c.2091T>C (p.His697=) rs752741204 0.00001
NM_000435.3(NOTCH3):c.300C>G (p.Gly100=) rs764852292 0.00001
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_000435.3(NOTCH3):c.6522G>C (p.Arg2174=) rs1280248640 0.00001
NM_000435.3(NOTCH3):c.6546C>A (p.Gly2182=) rs765248853 0.00001
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=) rs1168845943 0.00001
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=) rs769998736 0.00001
NM_001009944.3(PKD1):c.4815C>T (p.Gly1605=) rs149561527 0.00001
NM_001009944.3(PKD1):c.6096C>T (p.Ala2032=) rs776890572 0.00001
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=) rs949370419 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001126108.2(SLC12A3):c.2910T>A (p.Ala970=) rs755684695 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001164508.2(NEB):c.9723+7G>A rs557480322 0.00001
NM_001166114.2(PNPLA6):c.2523C>T (p.Ile841=) rs375484169 0.00001
NM_001166114.2(PNPLA6):c.946C>A (p.Arg316=) rs1352475389 0.00001
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=) rs759393763 0.00001
NM_001267550.2(TTN):c.33594C>T (p.Pro11198=) rs1553829479 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.5835C>T (p.Asp1945=) rs201949292 0.00001
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=) rs149339933 0.00001
NM_001540.5(HSPB1):c.117G>A (p.Pro39=) rs752555764 0.00001
NM_001961.4(EEF2):c.1725G>A (p.Pro575=) rs566897549 0.00001
NM_003482.4(KMT2D):c.4167G>A (p.Gly1389=) rs1237635545 0.00001
NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=) rs201736771 0.00001
NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=) rs772962111 0.00001
NM_005249.5(FOXG1):c.501G>A (p.Glu167=) rs773297334 0.00001
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=) rs768560730 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005591.4(MRE11):c.411A>G (p.Ala137=) rs776033471 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.342C>T (p.Gly114=) rs1370183248 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) rs200305087 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=) rs749046557 0.00001
NM_018109.4(MTPAP):c.1260A>G (p.Thr420=) rs1390957889 0.00001
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746 0.00001
NM_021008.4(DEAF1):c.720T>C (p.Phe240=) rs1271364831 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024884.3(L2HGDH):c.456A>G (p.Leu152=) rs1409566292 0.00001
NM_030665.4(RAI1):c.4681C>A (p.Arg1561=) rs750728463 0.00001
NM_030962.4(SBF2):c.4779C>A (p.Ser1593=) rs1054455232 0.00001
NM_173500.4(TTBK2):c.1051C>A (p.Gln351Lys) rs908445283 0.00001
NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=) rs745306977 0.00001
NM_181882.3(PRX):c.3351C>T (p.Ala1117=) rs535934188 0.00001
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=) rs758900989 0.00001
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=) rs772100783 0.00001
NM_182961.4(SYNE1):c.18214T>C (p.Leu6072=) rs747009172 0.00001
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=) rs148518750 0.00001
NM_182961.4(SYNE1):c.9915A>G (p.Ser3305=) rs764114386 0.00001
NM_201384.3(PLEC):c.7161G>A (p.Leu2387=) rs781982762 0.00001
NC_012920.1(MT-ND1):m.3669A>G rs386828918
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000091.5(COL4A3):c.261G>A (p.Thr87=) rs369517619
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000297.4(PKD2):c.468G>T (p.Arg156=) rs2110080600
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000344.4(SMN1):c.651A>G (p.Pro217=) rs2112811770
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000435.3(NOTCH3):c.1293T>C (p.Asp431=) rs2145436227
NM_000435.3(NOTCH3):c.1620G>A (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.2169C>G (p.Gly723=) rs771519821
NM_000435.3(NOTCH3):c.3504A>T (p.Pro1168=) rs1218422734
NM_000451.4(SHOX):c.-9del rs778186580
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=) rs1555441528
NM_000834.5(GRIN2B):c.813G>A (p.Ala271=) rs201732785
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=) rs1555445526
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001135022.2(ELMOD3):c.828G>A (p.Arg276=) rs2104756441
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=) rs1030563077
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001267550.2(TTN):c.20619A>G (p.Leu6873=) rs2079201822
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del) rs765355244
NM_001267550.2(TTN):c.44475A>T (p.Val14825=) rs1576607946
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378969.1(KCND3):c.228C>T (p.Asn76=) rs758608445
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) rs1170371506
NM_001961.4(EEF2):c.1714-6T>C rs2039700420
NM_001961.4(EEF2):c.2460G>T (p.Leu820=) rs145279867
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup) rs41550117
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_004070.4(CLCNKA):c.1500C>T (p.Pro500=) rs143389794
NM_004960.3(FUS):c.515_523+3del
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del) rs767564995
NM_004977.3(KCNC3):c.1098C>A (p.Arg366=) rs1455550384
NM_004977.3(KCNC3):c.1878G>A (p.Gly626=) rs570469383
NM_005529.7(HSPG2):c.13011C>T (p.Ala4337=) rs1263243391
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006946.4(SPTBN2):c.3057T>C (p.Thr1019=) rs141552726
NM_006946.4(SPTBN2):c.6896+9_6896+10del rs762643466
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) rs765844025
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.975C>G (p.Gly325=) rs141475476
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015340.4(LARS2):c.1626T>C (p.Pro542=) rs1352189510
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_018075.5(ANO10):c.159A>G (p.Arg53=) rs533186096
NM_018319.4(TDP1):c.621C>T (p.Asp207=) rs746662161
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=) rs755913742
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=) rs565823145
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_024411.5(PDYN):c.459T>C (p.Asp153=) rs1255371062
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_030962.4(SBF2):c.1930-10G>T rs765561519
NM_031844.3(HNRNPU):c.1495-3T>C rs758868739
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=) rs527448479
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=) rs771982103
NM_182961.4(SYNE1):c.23979-7G>A rs376918337
NM_182961.4(SYNE1):c.4227G>A (p.Gly1409=) rs2098471044
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=) rs201679896
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=) rs561155086
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156

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