ClinVar Miner

List of variants reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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ClinVar version:
Total variants: 721
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.178+22A>G rs231020 0.59479
NM_000304.4(PMP22):c.179-83T>C rs230950 0.56915
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_000304.4(PMP22):c.319+33C>T rs3744333 0.06039
NM_001353921.2(ARHGEF9):c.1322-49T>G rs56401522 0.03802
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_000304.4(PMP22):c.-34-216C>T rs151105938 0.01865
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.39895+65G>A rs72650068 0.00369
NM_001353921.2(ARHGEF9):c.*146G>C rs782358245 0.00311
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001353921.2(ARHGEF9):c.31-29459T>C rs145382128 0.00231
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036 0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_000529.2(MC2R):c.765G>A (p.Met255Ile) rs181640454 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000492.4(CFTR):c.*94C>T rs144214399 0.00051
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met) rs200603610 0.00024
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063 0.00023
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) rs121909363 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_178138.6(LHX3):c.281A>T (p.Gln94Leu) rs758634719 0.00008
NM_178138.6(LHX3):c.309G>T (p.Val103=) rs766945737 0.00008
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser) rs149569043 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr) rs546781274 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) rs147003438 0.00005
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) rs372027264 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000529.2(MC2R):c.433C>T (p.Arg145Cys) rs139218324 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=) rs368100270 0.00004
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350 0.00004
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) rs746615097 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn) rs770063137 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 0.00004
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His) rs781646326 0.00004
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) rs201175894 0.00003
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_001354712.2(THRB):c.*4G>A rs777224982 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020975.6(RET):c.884C>G (p.Thr295Arg) rs758159521 0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_198859.4(PRICKLE2):c.894C>T (p.Leu298=) rs372232760 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg) rs747724352 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000529.2(MC2R):c.634del (p.Arg212fs) rs1226345778 0.00002
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val) rs749599647 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.867+4del rs398124368 0.00002
NM_000044.6(AR):c.2343G>A (p.Met781Ile) rs137852589 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser) rs943838033 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) rs121909359 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000174.5(GP9):c.337del (p.Cys113fs) rs1297298519 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000304.4(PMP22):c.319+14G>T rs1567704579 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 0.00001
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752 0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660 0.00001
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121 0.00001
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys) rs767384862 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001105206.3(LAMA4):c.1643T>C (p.Leu548Pro) rs1562683086 0.00001
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val) rs368316926 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) rs1354053223 0.00001
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) rs1553609210 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp) rs545198745 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003865.3(HESX1):c.240del (p.Glu81fs) rs777833871 0.00001
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_005149.3(TBX19):c.916+2T>G rs763382655 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) rs756232889 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys) rs374178074 0.00001
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) rs766381404 0.00001
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438 0.00001
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) rs1166053009 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) rs1555969807
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) rs1555982860
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr) rs137852586
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1888del (p.Arg630fs) rs1555995750
NM_000044.6(AR):c.2044G>A (p.Glu682Lys) rs1555995816
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2104C>T (p.Leu702Phe) rs1555995851
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.214C>T (p.Gln72Ter) rs1555969512
NM_000044.6(AR):c.2155T>C (p.Trp719Arg) rs1555995865
NM_000044.6(AR):c.2171C>T (p.Pro724Leu) rs1555995877
NM_000044.6(AR):c.217C>T (p.Gln73Ter) rs1199988820
NM_000044.6(AR):c.220C>T (p.Gln74Ter) rs886041129
NM_000044.6(AR):c.2258G>A (p.Arg753Gln) rs1057523747
NM_000044.6(AR):c.2266del (p.Thr756fs) rs1555996855
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2299C>G (p.Pro767Ala) rs1555996867
NM_000044.6(AR):c.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2562_2563del (p.Arg855fs) rs1555997799
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2593G>A (p.Asp865Asn) rs1555997810
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2613del (p.Arg872fs) rs1555998085
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.2683ATG[1] (p.Met896del) rs1555998102
NM_000044.6(AR):c.2720_2721del (p.Ile907fs) rs1555998114
NM_000044.6(AR):c.743G>T (p.Gly248Val) rs1555969682
NM_000044.6(AR):c.796dup (p.Asp266fs) rs1555969694
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.3(BTK):c.141+3_141+6del rs1555980866
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1567-2A>T rs1555977598
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.3(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.3(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.953C>T (p.Ser318Phe) rs1555978197
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile) rs1558911753
NM_000088.4(COL1A1):c.1201-1G>A rs72648321
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter) rs868166455
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) rs1553507345
NM_000090.4(COL3A1):c.3008T>C (p.Leu1003Pro) rs1553509307
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.3081del (p.Asp1028fs) rs1555398774
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe) rs397515814
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000152.5(GAA):c.-32-18C>G rs771367579
NM_000163.5(GHR):c.12G>C (p.Trp4Cys) rs1554020272
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) rs190314158
NM_000163.5(GHR):c.945G>A (p.Lys315=) rs1554040858
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs) rs1554705693
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser) rs767765046
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del) rs1554694678
NM_000197.2(HSD17B3):c.454-1G>A rs1554694264
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) rs773720185
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) rs144859947
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.580T>G (p.Phe194Val) rs750481017
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1053+5G>A rs1557414132
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000257.4(MYH7):c.1030G>C (p.Glu344Gln) rs730880862
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1112_1117del (p.Glu371_Gln372del) rs1566535829
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro) rs139354105
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.536+1G>A rs386833651
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
NM_000314.8(PTEN):c.193T>A (p.Tyr65Asn) rs587780005
NM_000314.8(PTEN):c.197A>T (p.Lys66Met) rs1564826805
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.30C>G (p.Ser10Arg) rs1564801689
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000325.6(PITX2):c.307C>T (p.Gln103Ter) rs1553922901
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) rs1553329443
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.729del (p.Lys244fs) rs1553323033
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) rs1555972957
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) rs1555972640
NM_000475.5(NR0B1):c.277del (p.Ala93fs) rs1555973189
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.754del (p.Gln252fs) rs1555973063
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter) rs397508404
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000529.2(MC2R):c.410G>C (p.Arg137Pro) rs1208417750
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys) rs1555619429
NM_000529.2(MC2R):c.560del (p.Val187fs) rs1555619406
NM_000529.2(MC2R):c.573C>A (p.Cys191Ter) rs762692123
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.599+1G>A rs45460895
NM_000548.5(TSC2):c.687C>G (p.Asn229Lys) rs1555498802
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.3005G>T (p.Gly1002Val) rs773762599
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val) rs1558457775
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu) rs1558462911
NM_001042492.2(NF1):c.[6708delT;6710C>G]
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.125_126dup (p.Leu43fs) rs1555604897
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_001042492.3(NF1):c.2251+1G>A rs1555613843
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.282del (p.Ala95fs) rs1555605404
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.3111dup (p.Arg1038Ter) rs1131691127
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1del rs1567862095
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu) rs1555619015
NM_001042492.3(NF1):c.4905T>G (p.Tyr1635Ter) rs948982039
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5157del (p.Ile1719fs) rs1555533382
NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs) rs1555533552
NM_001042492.3(NF1):c.5317dup (p.Leu1773fs) rs1555533561
NM_001042492.3(NF1):c.5404del (p.Thr1802fs) rs1597832056
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_001042492.3(NF1):c.5830del (p.Leu1944fs) rs1555534378
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.6794del (p.Lys2265fs) rs1597845155
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter) rs1567623508
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7811del (p.Leu2604fs) rs1555536701
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs) rs1597866554
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter) rs1567627709
NM_001042492.3(NF1):c.8084del (p.Pro2695fs) rs1555536928
NM_001042492.3(NF1):c.889-1G>C rs587781517
NM_001042492.3(NF1):c.979_997del (p.Leu327fs) rs1597680978
NM_001077415.3(CRELD1):c.1049-376T>G rs73118372
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His) rs1557176118
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe) rs376125239
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) rs145670933
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys) rs1559149025
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter) rs1559144583
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs) rs1569315842
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.914A>G (p.Asp305Gly) rs1569315243
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) rs2093486364
NM_001276345.2(TNNT2):c.42-82C>T rs1558248842
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs) rs1569219844
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr) rs1410900258
NM_001353921.2(ARHGEF9):c.211-5C>T rs1569481993
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu) rs1553610974
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) rs28999971
NM_001354712.2(THRB):c.1293A>G (p.Ile431Met) rs1553609195
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
NM_001354712.2(THRB):c.1305T>G (p.His435Gln) rs1553609185
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe) rs1553609152
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser) rs28933408
NM_001354712.2(THRB):c.1358dup (p.Leu454fs) rs1553609119
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup) rs1553616532
NM_001354712.2(THRB):c.700G>C (p.Ala234Pro) rs121918694
NM_001354712.2(THRB):c.727C>G (p.Arg243Gly) rs121918707
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.737T>C (p.Leu246Pro) rs1553616482
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.920G>A (p.Gly307Asp) rs1553611101
NM_001354712.2(THRB):c.928A>G (p.Met310Val) rs1553611094
NM_001354712.2(THRB):c.938T>C (p.Met313Thr) rs1553611083
NM_001354712.2(THRB):c.941C>T (p.Ser314Phe) rs1553611075
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.980C>A (p.Thr327Asn) rs1553611038
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs) rs1603198063
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_001482.3(GATM):c.367G>A (p.Ala123Thr) rs1566840902
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) rs1554063781
NM_002471.4(MYH6):c.1551C>A (p.Asp517Glu) rs757410478
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003140.3(SRY):c.266A>C (p.Glu89Ala) rs1556370554
NM_003140.3(SRY):c.89G>T (p.Arg30Ile) rs1556370576
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_003630.3(PEX3):c.942-8T>G rs267608193
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) rs104894402
NM_004004.6(GJB2):c.226C>G (p.Leu76Val) rs1566528748
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.646A>C (p.Arg216=) rs1446334784
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.3(DMD):c.7310-1G>A rs1556880354
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs) rs398124105
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) rs1564773559
NM_004287.5(GOSR2):c.94+2T>G rs1568166989
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004415.4(DSP):c.208A>G (p.Thr70Ala) rs1442496444
NM_004519.4(KCNQ3):c.2467G>A (p.Gly823Arg) rs1563761293
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_005149.3(TBX19):c.158_159del (p.Arg53fs) rs763818059
NM_005149.3(TBX19):c.210G>T (p.Met70Ile) rs1558190316
NM_005149.3(TBX19):c.265del (p.Leu89fs) rs1558190339
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe) rs1558190989
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) rs1159356681
NM_005149.3(TBX19):c.665+1del rs1558192351
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274
NM_005159.5(ACTC1):c.101C>T (p.Pro34Leu) rs1373760624
NM_005159.5(ACTC1):c.922T>A (p.Tyr308Asn) rs1566967093
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) rs121913562
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) rs775382722
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser) rs745451424
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) rs1553960775
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val) rs878855018
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln) rs1569180680
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_024334.3(TMEM43):c.-6C>T rs1281893880
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) rs1553282666
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val) rs864309506
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg) rs1566962361
NM_144573.4(NEXN):c.1108A>G (p.Thr370Ala) rs1557988169
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) rs1567378768
NM_152594.3(SPRED1):c.-294CT[2] rs1048605006
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp) rs1555391048
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe) rs1555392025
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_198904.4(GABRG2):c.892A>G (p.Lys298Glu) rs1561658609

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