ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Counsyl and "likely pathogenic" from any submitter

Minimum review status of the submission from Counsyl: Collection method of the submission from Counsyl:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 756
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HGVS dbSNP gnomAD frequency
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_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) rs72549307 0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) rs755416212 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1054del rs752976348
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541

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