ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "likely benign"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 518

HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871 0.00998
UGT1A1*6 rs4148323 0.00891
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_002461.3(MVD):c.70+5G>A rs200035262 0.00306
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_007052.5(NOX1):c.721C>T (p.Arg241Cys) rs142303829 0.00191
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00191
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451 0.00116
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_001301130.2(POLR2F):c.453-24294G>C rs533778281 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499 0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) rs138952094 0.00076
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_007103.4(NDUFV1):c.595C>T (p.Arg199Cys) rs201289242 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val) rs140967767 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr) rs150192787 0.00031
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098 0.00030
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=) rs149554388 0.00021
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) rs766087023 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter) rs754242209 0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr) rs779995373 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) rs782344765 0.00005
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met) rs145296477 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala) rs730880300 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_001195553.2(DCX):c.-22-364C>T rs761786389 0.00003
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_006667.5(PGRMC1):c.533C>T (p.Thr178Ile) rs201254642 0.00003
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) rs782304760 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys) rs369082457 0.00002
NM_000018.4(ACADVL):c.894G>A (p.Lys298=) rs749598830 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000238.4(KCNH2):c.1128+1820_1128+1821del rs1064794494 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) rs755305281 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001231.5(CASQ1):c.1039G>T (p.Gly347Ter) rs150143470 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn) rs753603407 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_153006.3(NAGS):c.427-222G>A rs2049072767 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_172201.2(KCNE2):c.205G>A (p.Val69Met) rs542835031 0.00001
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
NC_012920.1:m.15001T>C rs527236169
NC_012920.1:m.15061A>G rs527236205
NC_012920.1:m.15148G>A rs527236206
NC_012920.1:m.15226A>G rs527236174
NC_012920.1:m.15289T>C rs527236175
NC_012920.1:m.15346G>A rs527236180
NC_012920.1:m.15355G>A rs527236181
NC_012920.1:m.15385C>T rs527236183
NC_012920.1:m.15553G>A rs527236189
NC_012920.1:m.15670T>C rs193302997
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000053.4(ATP7B):c.2241C>T (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
NM_000094.4(COL7A1):c.6181-4del rs2044209233
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000213.5(ITGB4):c.3977-30_3977-17del rs1064795468
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.783C>T (p.Phe261=) rs768119795
NM_000260.4(MYO7A):c.5327-11A>G rs397516316
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000392.5(ABCC2):c.1531-2A>G
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.2079G>A (p.Lys693=) rs551528700
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.941-4G>A
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001145536.2(C17orf107):c.*377GGAG[1] rs762704832
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His) rs151187151
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001378609.3(OTOGL):c.4199+5_4199+8del rs1887509535
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_002529.4(NTRK1):c.1501+1G>A rs1647858636
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg) rs2054049431
NM_015441.3(OLFML2B):c.1058G>A (p.Arg353His)
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1]) rs760022693
NM_015909.4(NBAS):c.2513C>T (p.Thr838Met)
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_144666.3(DNHD1):c.11207-9_11207del
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) rs2100267180
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
Single allele

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