ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Fulgent Genetics, Fulgent Genetics and "benign" from any submitter

Minimum review status of the submission from Fulgent Genetics, Fulgent Genetics: Collection method of the submission from Fulgent Genetics, Fulgent Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 281
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys) rs140240214 0.00033
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys) rs138118085 0.00016
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr) rs373272476 0.00015
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln) rs368119340 0.00015
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro) rs372035579 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn) rs148126873 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000384.3(APOB):c.5434G>T (p.Gly1812Trp) rs140174653 0.00012
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000384.3(APOB):c.7006G>A (p.Ala2336Thr) rs146888928 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln) rs61742990 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927 0.00009
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu) rs200524554 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser) rs546747242 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg) rs72653074 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) rs200962317 0.00004
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val) rs147416761 0.00003
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) rs768045701 0.00003
NM_000384.3(APOB):c.655C>T (p.Arg219Cys) rs145661815 0.00003
NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn) rs146333152 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) rs200638996 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) rs369794887 0.00003
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409 0.00003
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr) rs374389311 0.00002
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys) rs199966747 0.00002
NM_000384.3(APOB):c.4928C>T (p.Ala1643Val) rs1008238083 0.00002
NM_000384.3(APOB):c.5580G>T (p.Gln1860His) rs199585500 0.00002
NM_000384.3(APOB):c.7727G>A (p.Arg2576His) rs759057929 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000384.3(APOB):c.12025G>A (p.Val4009Met) rs140424976 0.00001
NM_000384.3(APOB):c.2333G>A (p.Arg778His) rs201595604 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001458.5(FLNC):c.2376C>T (p.Ser792=) rs754097557 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) rs751707090 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.807+3G>T rs144925893
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766

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