ClinVar Miner

Variants with conflicting interpretations "pathogenic" from CeGaT Center for Human Genetics Tuebingen and "uncertain significance" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 284
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
UGT1A1*6 rs4148323 0.00891
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_014669.5(NUP93):c.2137-18G>A rs376379631 0.00025
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys) rs200514769 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003052.5(SLC34A1):c.464T>C (p.Leu155Pro) rs369770760 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val) rs148248971 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs) rs587777196 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000434.4(NEU1):c.1034C>T (p.Thr345Ile) rs750975716 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001395891.1(CLASP1):c.196-672A>G rs863225423 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter) rs121918368 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000550.3(TYRP1):c.643C>G (p.His215Asp) rs1160525621
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001163435.3(TBCK):c.2252del (p.Pro751fs) rs775034792
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001267550.2(TTN):c.51437-1G>C rs2055916646
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001374828.1(ARID1B):c.1293_1311dup (p.Gly438fs) rs943407609
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys) rs1553363925
NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter) rs1894556452
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp) rs1584925614
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe) rs1356658811
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe) rs755135545
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) rs770986654
NM_177965.4(CFAP418):c.16_19del (p.Asp6fs) rs1563477343
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902
UGT1A1*28 rs3064744

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