ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from PreventionGenetics, part of Exact Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 349
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
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_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) rs200809908 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) rs200462856 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter) rs782365743 0.00002
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter) rs1203007423 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) rs1327701164 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001194998.2(CEP152):c.88-2A>G rs537376932 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006907.4(PYCR1):c.797+2T>C rs768235246 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser) rs758860164
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000144.5(FXN):c.493C>T (p.Arg165Cys) rs138034837
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.769-784C>T
NM_000372.5(TYR):c.1037-3C>G
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001011658.4(TRAPPC2):c.239-10_239-7del rs2146773091
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001080517.3(SETD5):c.1782+1G>T
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) rs1673967254
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
NM_001735.3(C5):c.957CAA[1] (p.Asn320del) rs772444483
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe) rs992720162
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp) rs2103938644
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) rs1057515614
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys)
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) rs78506343
NM_022095.4(ZNF335):c.2442+1G>A
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030773.4(TUBB1):c.844C>T (p.Arg282Ter)
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_033380.3(COL4A5):c.2767+4A>G
NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116

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