ClinVar Miner

Variants with conflicting interpretations "likely benign" from Athena Diagnostics Inc and "uncertain significance" from Eurofins NTD LLC (GA)

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: 337
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 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_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00159
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00155
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) rs200718262 0.00121
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00101
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
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_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
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_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=) rs377059744 0.00061
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 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_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 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_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
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_201384.3(PLEC):c.540C>T (p.Cys180=) rs189256993 0.00051
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00049
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00040
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361 0.00036
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742 0.00033
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 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_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314 0.00026
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00024
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=) rs199990259 0.00023
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_201384.3(PLEC):c.2268C>T (p.Thr756=) rs371267446 0.00022
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273 0.00021
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 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_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
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_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 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_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 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_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 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_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823 0.00015
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 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_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00014
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00012
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 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_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 0.00011
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081 0.00009
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885 0.00009
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 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_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495 0.00008
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00006
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) rs374937961 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_201384.3(PLEC):c.2580G>A (p.Pro860=) rs782468518 0.00004
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 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_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_201384.3(PLEC):c.2550C>G (p.Ala850=) rs376777606 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832 0.00002
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922 0.00002
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 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_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=) rs772377391 0.00001
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00001
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155

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