ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely pathogenic" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 700
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
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_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
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_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys) rs200019717 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter) rs750210485 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 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_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe) rs146453758 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) rs138294250 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00003
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr) rs201176444 0.00003
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) rs1301059768 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 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_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg) rs750609110 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln) rs758877243 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 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_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln) rs371238926 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile) rs1407509439 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg) rs748354081 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys) rs11551664 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) rs776157924 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly) rs1064793194 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) rs538983393 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
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.3272G>A (p.Cys1091Tyr) rs778825095
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) rs28897758
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe) rs1671865905
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) rs72551360
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) rs745454291
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000551.4(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
NM_001039876.3(SYNE4):c.973-2A>T
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His) rs1017182331
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly) rs142012387
NM_001089.3(ABCA3):c.1112-20G>A
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.851+5G>A rs193922620
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His) rs1569420470
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) rs1553400438
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly) rs1601280230
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn) rs779190582
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys) rs2137589027
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001370259.2(MEN1):c.654+3A>T rs1064793168
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) rs1673967254
NM_001399.5(EDA):c.931T>C (p.Tyr311His) rs1085307599
NM_001673.5(ASNS):c.753_755del (p.Arg252del) rs752897486
NM_001739.2(CA5A):c.767_774+13del rs762768981
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.2862C>G (p.Ile954Met) rs2152060967
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs) rs752784904
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004333.6(BRAF):c.826G>C (p.Val276Leu) rs1057518105
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004813.4(PEX16):c.956_958del (p.Pro319del) rs754790425
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val) rs1312334046
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.401-1G>C rs747225246
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro) rs879254042
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs) rs1555574355
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_013339.4(ALG6):c.908_910del (p.Cys303del) rs1057517952
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter) rs1168689294
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018052.5(VAC14):c.947-2A>G
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_182943.3(PLOD2):c.2122-2A>G
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NR_003051.4(RMRP):n.52C>T rs1064793373

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