ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Invitae and "benign" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 413
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln) rs548415902 0.00676
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_001128228.3(TPRN):c.533C>T (p.Ala178Val) rs971592946 0.00433
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala) rs777175618 0.00097
NM_000787.4(DBH):c.1772A>T (p.Glu591Val) rs75512464 0.00096
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn) rs61732021 0.00094
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu) rs200673226 0.00080
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser) rs200274020 0.00062
NM_001367624.2(ZNF469):c.7573C>G (p.Pro2525Ala) rs574478833 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser) rs140770089 0.00058
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser) rs78119534 0.00057
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316 0.00056
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_001367624.2(ZNF469):c.697G>A (p.Asp233Asn) rs538330967 0.00053
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys) rs749409983 0.00050
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile) rs182652779 0.00049
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp) rs144759014 0.00045
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr) rs143635399 0.00041
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe) rs143941725 0.00039
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238 0.00034
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_022915.5(MRPL44):c.648+4C>T rs369491695 0.00031
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847 0.00031
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met) rs117639561 0.00030
NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg) rs760926920 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00028
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128 0.00026
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) rs147399432 0.00025
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) rs144342633 0.00025
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970 0.00024
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys) rs147724326 0.00023
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) rs561830314 0.00021
NM_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 0.00021
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_024642.5(GALNT12):c.303C>G (p.His101Gln) rs201926457 0.00021
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr) rs150088385 0.00021
NM_001261826.3(AP3D1):c.2254A>G (p.Lys752Glu) rs201042393 0.00019
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg) rs368739905 0.00015
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile) rs142456282 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe) rs376313232 0.00014
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs) rs771415140 0.00014
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His) rs751263352 0.00014
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro) rs201459076 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) rs397516300 0.00013
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser) rs536326964 0.00013
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_033163.5(FGF8):c.686C>T (p.Thr229Met) rs137852664 0.00013
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331 0.00013
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_018136.5(ASPM):c.9085-3T>C rs201188381 0.00011
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608 0.00011
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_004655.4(AXIN2):c.1376G>A (p.Arg459His) rs368525111 0.00010
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu) rs149277592 0.00010
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr) rs369502542 0.00010
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met) rs375205272 0.00009
NM_001734.5(C1S):c.1079G>T (p.Gly360Val) rs143619931 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys) rs367654370 0.00007
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser) rs373190699 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_001367624.2(ZNF469):c.4910G>A (p.Arg1637Gln) rs273585621 0.00006
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) rs201325716 0.00006
NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys) rs139743858 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His) rs142343910 0.00006
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln) rs374432034 0.00006
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu) rs370401767 0.00006
NM_139076.3(ABRAXAS1):c.476+5A>C rs753767582 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr) rs750803516 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001367624.2(ZNF469):c.356G>A (p.Arg119His) rs759962057 0.00005
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val) rs199592435 0.00005
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys) rs782181274 0.00004
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp) rs371337420 0.00004
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys) rs750265500 0.00004
NM_012418.4(FSCN2):c.1104C>T (p.Val368=) rs751919154 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met) rs200002022 0.00004
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His) rs370899148 0.00003
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe) rs145425662 0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) rs45548638 0.00003
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln) rs777826268 0.00003
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val) rs761503203 0.00003
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser) rs781256236 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) rs138570124 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) rs373703770 0.00002
NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg) rs777195213 0.00002
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_004104.5(FASN):c.4654C>T (p.Arg1552Cys) rs762427627 0.00002
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln) rs753693755 0.00002
NM_014585.6(SLC40A1):c.646A>G (p.Met216Val) rs757531583 0.00002
NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn) rs371131434 0.00002
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His) rs369751310 0.00002
NM_175875.5(SIX5):c.1651G>A (p.Val551Met) rs755502593 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00002
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) rs786205356 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) rs758125850 0.00001
NM_000843.4(GRM6):c.2136G>A (p.Met712Ile) rs754893934 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628 0.00001
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val) rs917453243 0.00001
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala) rs1332073619 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001961.4(EEF2):c.1347-8T>G rs376174565 0.00001
NM_003238.6(TGFB2):c.37C>A (p.His13Asn) rs763918203 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_005184.4(CALM3):c.4-3C>T rs756875833 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp) rs370465436 0.00001
NM_006231.4(POLE):c.1359+4C>T rs752118019 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr) rs534741485 0.00001
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu) rs201617124 0.00001
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg) rs537734228 0.00001
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr) rs984170802 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp) rs993289778 0.00001
NM_021831.6(AGBL5):c.909-3C>T rs772125178 0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) rs370404126 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_144670.6(A2ML1):c.3264+5G>A rs200006435 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly) rs773831845 0.00001
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00001
NM_177438.3(DICER1):c.1631G>A (p.Arg544Gln) rs143533680 0.00001
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr) rs761844853 0.00001
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797 0.00001
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=) rs113716139 0.00001
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln) rs52826008
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=) rs587781165
NM_000335.5(SCN5A):c.4540-10C>A rs750747122
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile) rs28756990
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[3] (p.2285EEEEER[5]) rs763153590
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) rs1060499971
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) rs1467598370
NM_001374828.1(ARID1B):c.501CCA[6] (p.His172dup) rs752012879
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001437.3(ESR2):c.541_543del (p.Asn181del) rs750091675
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val)
NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)
NM_001447.3(FAT2):c.59A>G (p.Lys20Arg)
NM_001447.3(FAT2):c.7463C>T (p.Ala2488Val)
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup) rs574179816
NM_001451.3(FOXF1):c.60_62del (p.Gly23del) rs757668134
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala) rs1781946410
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) rs372152373
NM_002578.5(PAK3):c.525_527del (p.Asp175del) rs770793505
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003470.3(USP7):c.12G>C (p.Gln4His)
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg) rs762358335
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His)
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln) rs547554309
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu) rs554197864
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3]) rs764571894
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg) rs401502
NM_006245.4(PPP2R5D):c.1588C>T (p.Pro530Ser) rs140491750
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup) rs1194909078
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu) rs201190266
NM_006516.4(SLC2A1):c.679+4C>A rs139492241
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del) rs753170095
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp) rs558942739
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_007286.6(SYNPO):c.2372CCCCGC[2] (p.Pro795_Pro800del)
NM_007286.6(SYNPO):c.2372CCCCGC[3] (p.Pro797_Pro800del) rs769259449
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp) rs1567796302
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) rs181420326
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile) rs1005458732
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer) rs747459594
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter) rs148074899
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys) rs1010286043
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile) rs200295887
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup) rs377177611
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
NM_018417.6(ADCY10):c.3864A>C (p.Lys1288Asn)
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val)
NM_020831.6(MRTFA):c.1993GCCCCC[2] (p.665AP[2]) rs754085988
NM_020928.2(ZSWIM6):c.151GCG[4] (p.Ala55_Ala56del) rs779283808
NM_020928.2(ZSWIM6):c.522CGC[8] (p.Ala183_Ala184del)
NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys) rs376964045
NM_032656.4(DHX37):c.478GAG[11] (p.Glu168_Ser169insGluGlu)
NM_052872.4(IL17F):c.254+1G>A rs117796773
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro) rs759246551
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) rs200219373
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln) rs34507711
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) rs777108086
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_170606.3(KMT2C):c.4507+5A>G rs2129129571
NM_182641.4(BPTF):c.8102C>T (p.Thr2701Met)
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_183381.3(RNF13):c.427A>G (p.Ile143Val)
NM_198994.3(TGM6):c.245G>T (p.Gly82Val) rs144094215
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile) rs768619553
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
Single allele

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