ClinVar Miner

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

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

Total variants with conflicting interpretations: 286

HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) rs4614906 0.17664
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
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_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_003803.4(MYOM1):c.1900+3A>C rs77613865 0.00536
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
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_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
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_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp) rs144536804 0.00281
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_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772 0.00261
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_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_024072.4(DDX54):c.856G>A (p.Val286Met) rs148961522 0.00241
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
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_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
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_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NC_000022.11:g.38016774G>C rs533778281 0.00095
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) rs138952094 0.00076
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 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_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
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_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) rs191708663 0.00059
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_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572 0.00043
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 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_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) rs185865505 0.00021
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_170606.3(KMT2C):c.12433C>T (p.Arg4145Cys) rs201100798 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys) rs141599415 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_001205293.3(CACNA1E):c.3275C>T (p.Thr1092Met) rs1382064469 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
NC_012920.1(MT-CYB):m.14783T>C rs193302982
NC_012920.1(MT-CYB):m.14905G>A rs193302983
NC_012920.1(MT-CYB):m.15043G>A rs193302985
NC_012920.1(MT-CYB):m.15301G>A rs193302991
NC_012920.1(MT-CYB):m.15607A>G rs193302996
NC_012920.1(MT-CYB):m.15784T>C rs527236194
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.820+2T>C
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-4G>A
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_001001548.3(CD36):c.158del (p.Asn53fs) rs571975065
NM_001079843.3(CASZ1):c.5127CGA[2] (p.Asp1711_Asp1712del) rs201089181
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001846.4(COL4A2):c.2051G>C (p.Gly684Ala)
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_003482.4(KMT2D):c.2992C>G (p.Pro998Ala) rs143711798
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_018418.5(SPATA7):c.20_23delTCAG rs527236050
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
Single allele

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