ClinVar Miner

Variants with conflicting interpretations "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: 289
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00164
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00131
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=) rs200741156 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00081
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) rs115736276 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00070
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00048
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_201384.3(PLEC):c.174+10G>A rs181850748 0.00030
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00026
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00019
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00008
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00005
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000451.4(SHOX):c.702G>A (p.Ala234=) rs576542942 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_000451.4(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916

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