ClinVar Miner

List of variants reported as uncertain significance for not specified by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1015
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_005529.7(HSPG2):c.4221+61G>T rs56270915 0.00350
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00236
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp) rs118106526 0.00128
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001371389.2(FBXO41):c.1390C>T (p.Arg464Cys) rs199960192 0.00091
NM_002626.6(PFKL):c.1907C>A (p.Thr636Lys) rs141250471 0.00089
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157 0.00081
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) rs8190976 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys) rs138900040 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_002626.6(PFKL):c.2212G>A (p.Glu738Lys) rs140555552 0.00057
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro) rs200243989 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn) rs371825362 0.00044
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_002706.6(PPM1B):c.481C>G (p.Gln161Glu) rs34745955 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560 0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) rs372091476 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His) rs144692310 0.00024
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys) rs771264933 0.00022
NM_005529.7(HSPG2):c.283G>C (p.Glu95Gln) rs145704241 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001355436.2(SPTB):c.1182+3A>G rs45556435 0.00019
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) rs144688616 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_153700.2(STRC):c.4466A>C (p.Glu1489Ala) rs200009157 0.00017
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) rs368832453 0.00016
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser) rs775736052 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) rs774277300 0.00016
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001358263.1(HK1):c.28-3329G>A rs192516988 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_002148.4(HOXD10):c.130G>A (p.Gly44Arg) rs145541578 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu) rs375576650 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001256317.3(TMPRSS3):c.47G>A (p.Arg16Gln) rs369418733 0.00013
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser) rs201569378 0.00013
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848 0.00013
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) rs371344688 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) rs150039066 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00012
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817 0.00012
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) rs992621550 0.00011
NM_001145809.2(MYH14):c.266T>C (p.Leu89Pro) rs988356194 0.00011
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln) rs376432305 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) rs200508249 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00011
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854 0.00010
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000059.4(BRCA2):c.7435+23A>G rs761412178 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000178.4(GSS):c.911C>T (p.Thr304Ile) rs374498290 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001145809.2(MYH14):c.2651A>G (p.Tyr884Cys) rs373457292 0.00009
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala) rs749123042 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala) rs145958673 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp) rs114342311 0.00009
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala) rs878854979 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00007
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) rs201753543 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001375808.2(LPIN2):c.2174+10C>T rs201227858 0.00007
NM_001457.4(FLNB):c.1216G>A (p.Val406Met) rs367842487 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000637.5(GSR):c.1565G>A (p.Arg522His) rs758486247 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350 0.00006
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu) rs761049480 0.00006
NM_001145809.2(MYH14):c.3433C>T (p.Arg1145Trp) rs773117828 0.00006
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu) rs200491706 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285 0.00006
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile) rs371366196 0.00006
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) rs201741634 0.00006
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040 0.00006
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132 0.00006
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798 0.00006
NM_002626.6(PFKL):c.175G>A (p.Val59Met) rs150271960 0.00006
NM_002907.4(RECQL):c.1285A>G (p.Met429Val) rs368679142 0.00006
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp) rs768966753 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005548.3(KARS1):c.222+3G>A rs767391172 0.00006
NM_005897.3(IPP):c.1411A>G (p.Met471Val) rs572992251 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016579.4(CD320):c.344A>G (p.Asp115Gly) rs939686446 0.00006
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser) rs199636312 0.00006
NM_144596.4(TTC8):c.579+44G>A rs537295982 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln) rs781605975 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000922.4(PDE3B):c.409A>G (p.Thr137Ala) rs376962336 0.00005
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys) rs767984672 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001355436.2(SPTB):c.5090G>A (p.Arg1697Gln) rs199551302 0.00005
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_002471.4(MYH6):c.1703G>A (p.Arg568His) rs376291577 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004863.4(SPTLC2):c.1628G>A (p.Arg543Gln) rs763898397 0.00005
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) rs375630981 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) rs112869526 0.00005
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.7594C>T (p.His2532Tyr) rs375080917 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met) rs374547489 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) rs561539546 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser) rs149762411 0.00004
NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) rs139617666 0.00004
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433 0.00004
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001084.5(PLOD3):c.2171C>T (p.Thr724Met) rs375797901 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His) rs1004130638 0.00004
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) rs375594801 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160 0.00004
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) rs747040987 0.00004
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp) rs576658764 0.00004
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser) rs566164007 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val) rs374118649 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn) rs758251388 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463 0.00004
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075 0.00004
NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser) rs771945509 0.00004
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys) rs565853695 0.00004
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) rs757261572 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018979.4(WNK1):c.4265T>G (p.Val1422Gly) rs779654189 0.00004
NM_018979.4(WNK1):c.5462C>T (p.Ala1821Val) rs371264719 0.00004
NM_019075.4(UGT1A10):c.855+44683G>A rs373408916 0.00004
NM_021625.5(TRPV4):c.711A>G (p.Arg237=) rs927188562 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022489.4(INF2):c.2765G>A (p.Arg922His) rs749197190 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys) rs142273664 0.00004
NM_177438.3(DICER1):c.1583T>C (p.Ile528Thr) rs143099538 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys) rs765891978 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met) rs371278091 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) rs143120209 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu) rs1397796355 0.00003
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000546.6(TP53):c.105G>C (p.Leu35Phe) rs121912661 0.00003
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000637.5(GSR):c.1261A>G (p.Ile421Val) rs199709765 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 0.00003
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg) rs771342044 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys) rs782361719 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr) rs752004128 0.00003
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys) rs752732851 0.00003
NM_001243133.2(NLRP3):c.-72G>A rs200386207 0.00003
NM_001267550.2(TTN):c.45940A>G (p.Met15314Val) rs1391292606 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001355436.2(SPTB):c.5668G>A (p.Asp1890Asn) rs757030587 0.00003
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256 0.00003
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser) rs773132030 0.00003
NM_001377.3(DYNC2H1):c.11509A>G (p.Lys3837Glu) rs1434517868 0.00003
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys) rs765336353 0.00003
NM_001377.3(DYNC2H1):c.5180T>C (p.Ile1727Thr) rs1478814855 0.00003
NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys) rs779111999 0.00003
NM_001377229.1(DISP1):c.559G>A (p.Asp187Asn) rs758163679 0.00003
NM_001395413.1(POR):c.1346C>T (p.Pro449Leu) rs72557935 0.00003
NM_001457.4(FLNB):c.5147C>T (p.Pro1716Leu) rs201370865 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_014629.4(ARHGEF10):c.2728A>G (p.Ile910Val) rs1480757811 0.00003
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) rs139235893 0.00003
NM_016239.4(MYO15A):c.3743G>A (p.Arg1248Gln) rs751800816 0.00003
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_181523.3(PIK3R1):c.197G>A (p.Arg66Lys) rs761122171 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_194248.3(OTOF):c.2771A>G (p.Glu924Gly) rs1471175454 0.00003
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln) rs369183199 0.00002
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000518.5(HBB):c.*93A>T rs901033731 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001145809.2(MYH14):c.4615C>T (p.Arg1539Cys) rs770767114 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673 0.00002
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001291303.3(FAT4):c.9800A>G (p.His3267Arg) rs773545119 0.00002
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) rs755636829 0.00002
NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser) rs773216992 0.00002
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu) rs781778980 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala) rs558340290 0.00002
NM_001395413.1(POR):c.545A>G (p.Asn182Ser) rs782763044 0.00002
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) rs937051879 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621 0.00002
NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile) rs55948542 0.00002
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly) rs1324156287 0.00002
NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys) rs1456373630 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 0.00002
NM_005422.4(TECTA):c.3739A>C (p.Asn1247His) rs781691033 0.00002
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.11291G>A (p.Arg3764His) rs149520064 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7307C>A (p.Thr2436Asn) rs747403733 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe) rs748876625 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly) rs774138994 0.00002
NM_016239.4(MYO15A):c.1672G>A (p.Gly558Ser) rs761888570 0.00002
NM_016239.4(MYO15A):c.2099A>T (p.His700Leu) rs1042721945 0.00002
NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn) rs782660556 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp) rs762351406 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu) rs369149696 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000038.6(APC):c.3279T>G (p.Phe1093Leu) rs199539973 0.00001
NM_000038.6(APC):c.532T>A (p.Phe178Ile) rs1060503344 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) rs56242644 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000089.4(COL1A2):c.2122C>T (p.Arg708Trp) rs139199272 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000095.3(COMP):c.1148A>G (p.Gln383Arg) rs1221968769 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) rs576023546 0.00001
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu) rs587782593 0.00001
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met) rs786202044 0.00001
NM_000188.3(HK1):c.1220G>A (p.Arg407Gln) rs777108601 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000249.4(MLH1):c.786C>G (p.Ile262Met) rs748553134 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn) rs371222708 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His) rs146149484 0.00001
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) rs761613436 0.00001
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys) rs786202226 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile) rs769606990 0.00001
NM_000518.5(HBB):c.*97G>C rs770911771 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001042492.3(NF1):c.587-3C>T rs375188075 0.00001
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) rs578112440 0.00001
NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg) rs768130153 0.00001
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu) rs758557930 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851 0.00001
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00001
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg) rs536842871 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn) rs781566440 0.00001
NM_001145809.2(MYH14):c.4307G>A (p.Arg1436Gln) rs773527189 0.00001
NM_001145809.2(MYH14):c.4921C>T (p.Arg1641Cys) rs748898201 0.00001
NM_001148.6(ANK2):c.1511C>T (p.Ala504Val) rs1303233267 0.00001
NM_001235.5(SERPINH1):c.1222C>T (p.Arg408Trp) rs769154335 0.00001
NM_001244008.2(KIF1A):c.203C>T (p.Ala68Val) rs550027484 0.00001
NM_001244008.2(KIF1A):c.3816+8C>T rs776328472 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.31324G>A (p.Glu10442Lys) rs1039659323 0.00001
NM_001267550.2(TTN):c.36049G>A (p.Glu12017Lys) rs777140466 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.51551T>C (p.Ile17184Thr) rs752646731 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter) rs1584318294 0.00001
NM_001365536.1(SCN9A):c.2566A>G (p.Ile856Val) rs1218485798 0.00001
NM_001377.3(DYNC2H1):c.2000A>G (p.Asn667Ser) rs1591291196 0.00001
NM_001377.3(DYNC2H1):c.899A>G (p.His300Arg) rs775561158 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001384140.1(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885 0.00001
NM_001386125.1(OBSCN):c.14627C>T (p.Thr4876Ile) rs960549121 0.00001
NM_001457.4(FLNB):c.4717G>A (p.Asp1573Asn) rs373528171 0.00001
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr) rs1221821073 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002439.5(MSH3):c.3069C>G (p.His1023Gln) rs771861205 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002661.5(PLCG2):c.1501G>T (p.Ala501Ser) rs772234560 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe) rs386134206 0.00001
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu) rs751542188 0.00001
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln) rs1478000749 0.00001
NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter) rs1571371125 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile) rs773364224 0.00001
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg) rs750979600 0.00001
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp) rs370505170 0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys) rs775176412 0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr) rs1338231889 0.00001
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr) rs28382854 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys) rs767431377 0.00001
NM_005529.7(HSPG2):c.3028C>T (p.Arg1010Cys) rs377016014 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) rs768526003 0.00001
NM_006070.6(TFG):c.1198C>T (p.Arg400Ter) rs757661070 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) rs80357051 0.00001
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) rs398122662 0.00001
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val) rs935089030 0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu) rs1177361907 0.00001
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val) rs755657087 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn) rs752873001 0.00001
NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys) rs754487112 0.00001
NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser) rs1374451398 0.00001
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys) rs923187160 0.00001
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083 0.00001
NM_021939.4(FKBP10):c.1160G>A (p.Arg387Gln) rs782107514 0.00001
NM_021939.4(FKBP10):c.781G>A (p.Val261Met) rs781821453 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_030973.4(MED25):c.395G>A (p.Arg132His) rs1441155267 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser) rs375445058 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile) rs139322919 0.00001
NM_182925.5(FLT4):c.3108A>T (p.Arg1036Ser) rs776009030 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NC_012920.1(MT-CO2):m.7637G>A rs1556423314
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NC_012920.1:m.9568T>C rs1556423691
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.753-11T>G rs1555528341
NM_000018.4(ACADVL):c.756T>A (p.Asn252Lys) rs143233413
NM_000020.3(ACVRL1):c.1046T>G (p.Leu349Arg) rs765895870
NM_000020.3(ACVRL1):c.304G>C (p.Val102Leu) rs1555152538
NM_000033.4(ABCD1):c.1082-33C>A rs782720354
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) rs1557054849
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1937T>G (p.Ile646Arg) rs1554083243
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu) rs80358472
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg) rs56245590
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu) rs1593897508
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile) rs587782420
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) rs80358682
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu) rs1555284847
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr) rs80359139
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro) rs886041145
NM_000059.4(BRCA2):c.9501+8T>C rs1555289625
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.4(BRCA2):c.9824G>A (p.Ser3275Asn) rs864622720
NM_000074.3(CD40LG):c.256G>A (p.Glu86Lys) rs1556136676
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000090.4(COL3A1):c.1459G>T (p.Ala487Ser) rs1553508027
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000133.4(F9):c.1078T>A (p.Phe360Ile) rs1603267386
NM_000133.4(F9):c.189A>C (p.Glu63Asp) rs762447016
NM_000133.4(F9):c.613A>G (p.Thr205Ala) rs1603265805
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) rs1555561439
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.2540-13C>G rs1057522904
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.4582+3A>T rs777845323
NM_000138.5(FBN1):c.4C>G (p.Arg2Gly) rs1597652545
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=) rs1555394582
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000155.4(GALT):c.1070_1071del (p.Arg357fs) rs1554709579
NM_000155.4(GALT):c.904+3G>T rs1554709450
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) rs1555937012
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000188.3(HK1):c.495+12C>T rs557994641
NM_000208.4(INSR):c.2843-5T>G rs1555736265
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp) rs1555734564
NM_000208.4(INSR):c.421C>T (p.Arg141Trp) rs1555689823
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) rs911809758
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu) rs1261155576
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu) rs1564825414
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.641A>C (p.Gln214Pro) rs1596358209
NM_000243.3(MEFV):c.758C>A (p.Ala253Glu) rs768336098
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp) rs876658919
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.248T>C (p.Met83Thr) rs1573436408
NM_000251.3(MSH2):c.646-11T>C rs879254124
NM_000257.4(MYH7):c.2791G>T (p.Glu931Ter) rs1131691514
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn) rs1553926904
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser) rs1341016726
NM_000298.6(PKLR):c.100+407G>T rs746180822
NM_000298.6(PKLR):c.302T>C (p.Val101Ala) rs1572057758
NM_000298.6(PKLR):c.379C>G (p.His127Asp) rs1572057427
NM_000298.6(PKLR):c.380A>G (p.His127Arg) rs1572057410
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000342.4(SLC4A1):c.1490T>C (p.Leu497Pro) rs1598299453
NM_000350.3(ABCA4):c.1555-10CT[2] rs1280974868
NM_000371.4(TTR):c.47T>A (p.Phe16Tyr) rs1598843637
NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala) rs762291523
NM_000432.4(MYL2):c.59T>A (p.Met20Lys) rs113167834
NM_000441.2(SLC26A4):c.1382T>A (p.Met461Lys) rs1554359675
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.590G>A (p.Gly197Glu) rs1554354860
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000492.4(CFTR):c.1235C>T (p.Ala412Val) rs1554382604
NM_000492.4(CFTR):c.1407G>A (p.Met469Ile) rs143218779
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly) rs397508501
NM_000492.4(CFTR):c.3628A>G (p.Met1210Val) rs151264397
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu) rs369464175
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.778G>A (p.Val260Met) rs1390016549
NM_000517.6(HBA2):c.124A>G (p.Thr42Ala) rs281860654
NM_000517.6(HBA2):c.180C>T (p.Gly60=) rs1596569781
NM_000517.6(HBA2):c.224A>G (p.Asp75Gly) rs281864856
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.5(HBB):c.*78T>C rs1554917435
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.307A>G (p.Asn103Asp) rs33927739
NM_000518.5(HBB):c.315G>T (p.Arg105Ser) rs33914944
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr) rs1554300806
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del) rs764486868
NM_000546.6(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu) rs1171556696
NM_000552.5(VWF):c.2098G>T (p.Asp700Tyr) rs377672051
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000558.5(HBA1):c.19_21del (p.Asp7del) rs281865565
NM_000637.5(GSR):c.149C>A (p.Pro50Gln) rs1586077925
NM_000922.4(PDE3B):c.476C>T (p.Ala159Val) rs1590023524
NM_000942.5(PPIB):c.104A>G (p.Glu35Gly) rs752960312
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001018005.2(TPM1):c.240+3A>C rs1555403436
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile) rs1555409095
NM_001024630.4(RUNX2):c.886C>T (p.Pro296Ser) rs1554397657
NM_001033081.3(MYCL):c.-419C>G rs1570189511
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) rs758081460
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys) rs794728732
NM_001035.3(RYR2):c.4063G>T (p.Val1355Leu) rs1572999842
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg) rs1555615091
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp) rs1597843145
NM_001042492.3(NF1):c.7970+7A>G rs1597867052
NM_001042702.5(PJVK):c.868_870del (p.Lys290del) rs1575125659
NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile) rs1592043182
NM_001065.4(TNFRSF1A):c.212A>T (p.Asp71Val) rs1592047919
NM_001065.4(TNFRSF1A):c.92T>G (p.Val31Gly) rs763940329
NM_001103.4(ACTN2):c.697+1G>A rs113669376
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001114753.3(ENG):c.158G>C (p.Cys53Ser) rs187643086
NM_001114753.3(ENG):c.752T>C (p.Leu251Pro) rs1554810243
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys) rs1029809799
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.2488-34_2488-3del rs747907132
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) rs565593847
NM_001145809.2(MYH14):c.2988C>G (p.Ser996Arg) rs368160641
NM_001145809.2(MYH14):c.5975C>T (p.Thr1992Ile) rs1555779737
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001243133.2(NLRP3):c.3091G>C (p.Glu1031Gln) rs1572239975
NM_001267550.2(TTN):c.21958T>A (p.Leu7320Ile) rs1578036529
NM_001267550.2(TTN):c.22163A>G (p.Asn7388Ser) rs1350328102
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg) rs751040739
NM_001267550.2(TTN):c.2996G>C (p.Arg999Pro) rs371757623
NM_001267550.2(TTN):c.39089C>A (p.Ala13030Glu) rs747459623
NM_001267550.2(TTN):c.44083G>C (p.Glu14695Gln) rs1576671338
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.51481G>A (p.Ala17161Thr) rs1576397419
NM_001267550.2(TTN):c.7739T>C (p.Ile2580Thr) rs1554000030
NM_001267550.2(TTN):c.79970A>G (p.Asp26657Gly) rs1397158186
NM_001267550.2(TTN):c.85789T>C (p.Trp28597Arg) rs1575611720
NM_001267550.2(TTN):c.90614T>A (p.Ile30205Asn) rs1283032526
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg) rs755545981
NM_001321571.2(CAMK2D):c.914T>C (p.Leu305Ser) rs1590480879
NM_001355436.2(SPTB):c.1122A>C (p.Arg374Ser) rs1594787664
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu) rs1452760098
NM_001355436.2(SPTB):c.3409C>A (p.Leu1137Met) rs776879148
NM_001355436.2(SPTB):c.4453C>T (p.Arg1485Trp) rs373557486
NM_001355436.2(SPTB):c.901_903del (p.Glu301del) rs1594790255
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg) rs1603411632
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val) rs1603411458
NM_001365951.3(KIF1B):c.2115+6313G>T rs374263753
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys) rs141965955
NM_001370259.2(MEN1):c.913-65_913-14del rs1555165154
NM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe) rs1555216969
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp) rs1015526827
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala) rs370414127
NM_001377.3(DYNC2H1):c.12812T>G (p.Val4271Gly) rs913559604
NM_001377.3(DYNC2H1):c.1720C>A (p.His574Asn) rs1045577540
NM_001377.3(DYNC2H1):c.1951A>G (p.Lys651Glu) rs1461801774
NM_001379610.1(SPINK1):c.121A>C (p.Lys41Gln) rs1554089812
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.56G>T (p.Gly19Val) rs1411503462
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001457.4(FLNB):c.2642A>G (p.Asn881Ser) rs1199239072
NM_001457.4(FLNB):c.4402C>T (p.Pro1468Ser) rs988254831
NM_001457.4(FLNB):c.4411G>C (p.Val1471Leu) rs12632456
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala) rs1589394154
NM_001613.4(ACTA2):c.67T>A (p.Phe23Ile) rs1589400425
NM_001770.6(CD19):c.1133A>C (p.Tyr378Ser) rs1362199823
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001845.6(COL4A1):c.1277G>C (p.Gly426Ala) rs1594572151
NM_001931.5(DLAT):c.976-2del rs781853215
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_002109.6(HARS1):c.811G>C (p.Val271Leu) rs149018062
NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr) rs1333262915
NM_002230.4(JUP):c.1993T>C (p.Ser665Pro) rs1597780746
NM_002296.4(LBR):c.1423T>A (p.Leu475Ile) rs1553395780
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys) rs1038334022
NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala) rs1555551985
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002626.6(PFKL):c.1957T>C (p.Cys653Arg) rs1602058152
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.592-2A>C rs1585991476
NM_002838.5(PTPRC):c.692A>G (p.Lys231Arg) rs1553239146
NM_002890.3(RASA1):c.1834A>G (p.Thr612Ala) rs1314624861
NM_003000.3(SDHB):c.200+5G>C rs1553178726
NM_003036.4(SKI):c.436_437insCTC (p.Glu145_Leu146insPro) rs1553189924
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003098.3(SNTA1):c.205G>A (p.Glu69Lys) rs1555822126
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg) rs1571370675
NM_003126.4(SPTA1):c.813-6C>G rs1571523078
NM_003185.4(TAF4):c.3101_3102del (p.Pro1034fs) rs2123082853
NM_003244.4(TGIF1):c.700A>G (p.Asn234Asp) rs1555651109
NM_003849.4(SUCLG1):c.233A>G (p.Tyr78Cys) rs1553393784
NM_003849.4(SUCLG1):c.537A>G (p.Gly179=) rs1553393580
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro) rs749462900
NM_004004.6(GJB2):c.38T>G (p.Val13Gly) rs1593351795
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys) rs1584662598
NM_004444.5(EPHB4):c.2484+3A>T rs1584653617
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004990.4(MARS1):c.1717G>A (p.Asp573Asn) rs1594833103
NM_004999.4(MYO6):c.1837A>G (p.Arg613Gly) rs781019390
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005422.4(TECTA):c.1759A>G (p.Thr587Ala) rs1555123703
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.6665G>A (p.Gly2222Asp) rs200488208
NM_005529.7(HSPG2):c.6682G>C (p.Glu2228Gln) rs1572229579
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.9040G>A (p.Gly3014Arg) rs1553160553
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005629.4(SLC6A8):c.832C>T (p.Arg278Cys) rs1557044958
NM_005751.5(AKAP9):c.1288T>A (p.Leu430Ile) rs756987149
NM_005751.5(AKAP9):c.1289T>A (p.Leu430Ter) rs778556625
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp) rs1161759917
NM_006182.4(DDR2):c.1355G>C (p.Ser452Thr) rs1571316841
NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln) rs1443733304
NM_006446.5(SLCO1B1):c.1866-2A>G rs1591754361
NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp) rs80357381
NM_007294.4(BRCA1):c.2563C>A (p.Gln855Lys) rs80357131
NM_007294.4(BRCA1):c.3358G>C (p.Val1120Leu) rs748894760
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln) rs1597796507
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp) rs782566012
NM_014920.5(CILK1):c.964C>G (p.Pro322Ala) rs1183385446
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) rs1589747116
NM_015046.7(SETX):c.7943C>T (p.Ser2648Phe) rs1014113627
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met) rs267599768
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.321C>G (p.Asp107Glu) rs766238813
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln) rs1555546843
NM_016239.4(MYO15A):c.8882C>T (p.Thr2961Met) rs1347316160
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro) rs368106470
NM_017433.5(MYO3A):c.731+4A>T rs1184463802
NM_017820.5(EXD3):c.944C>T (p.Thr315Met) rs370293169
NM_018979.4(WNK1):c.6574G>A (p.Asp2192Asn) rs747750974
NM_019075.4(UGT1A10):c.855+44828T>C rs1575428418
NM_019844.4(SLCO1B3):c.728-4C>G rs759435706
NM_020297.4(ABCC9):c.4512+745dup rs1555176123
NM_020297.4(ABCC9):c.614C>T (p.Pro205Leu) rs1286474202
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala) rs138089753
NM_022041.4(GAN):c.322G>A (p.Ala108Thr) rs771660619
NM_022336.4(EDAR):c.481G>A (p.Gly161Ser) rs1553445966
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_032119.4(ADGRV1):c.1364T>G (p.Val455Gly) rs1580510493
NM_032119.4(ADGRV1):c.17683G>A (p.Val5895Ile) rs1025278736
NM_032578.4(MYPN):c.2565-17G>A rs1334366122
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033100.4(CDHR1):c.1915_1923del (p.Asp639_Leu641del) rs771786130
NM_033100.4(CDHR1):c.2473C>G (p.Pro825Ala) rs201515900
NM_080680.3(COL11A2):c.2870C>T (p.Pro957Leu) rs1554217670
NM_080680.3(COL11A2):c.2928G>C (p.Gly976=) rs147004824
NM_133379.5(TTN):c.11216A>G (p.Lys3739Arg) rs775847921
NM_144997.7(FLCN):c.665T>G (p.Met222Arg) rs1555609889
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) rs1554961433
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_177438.3(DICER1):c.2776G>C (p.Asp926His) rs1060503645
NM_182961.4(SYNE1):c.1951C>T (p.Pro651Ser) rs1455678689
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_198253.3(TERT):c.343T>A (p.Phe115Ile) rs1554043085
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu) rs727505155
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.