ClinVar Miner

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

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 683
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_015865.7(SLC14A1):c.342-1G>A rs78937798 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter) rs587777069 0.00016
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_144991.3(TSPEAR):c.38del (p.Leu13fs) rs778688031 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg) rs104894702 0.00008
NM_000479.5(AMH):c.905G>A (p.Arg302Gln) rs536688211 0.00007
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter) rs920852517 0.00007
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00007
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg) rs62639270 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter) rs121907892 0.00006
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter) rs779773463 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter) rs775126785 0.00004
NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter) rs762704959 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000111.3(SLC26A3):c.571-2A>G rs386833486 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter) rs978512526 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter) rs1440913446 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter) rs1176902020 0.00001
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter) rs530679736 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) rs1476500325 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000789.4(ACE):c.59_69del (p.Leu20fs) rs752411292 0.00001
NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter) rs748892794 0.00001
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter) rs764877172 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) rs1378470761 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter) rs200955619 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter) rs931911802 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter) rs753549113 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs) rs1794611030 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) rs149010496 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter) rs1243282597 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs) rs750895925 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_144672.4(OTOA):c.399+2T>C rs760573914 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter) rs756967336 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr) rs772014561 0.00001
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter) rs1164505506
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter) rs2150219679
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000094.4(COL7A1):c.448G>A (p.Gly150Arg) rs757715378
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000162.3(GCK):c.-557G>C
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) rs1571810782
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs)
NM_000350.3(ABCA4):c.769-784C>T
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.305_306del (p.Lys102fs)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter) rs1567519109
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.11320del (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12113dup (p.Met4038fs) rs1568562752
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu) rs1568605042
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs) rs1568613455
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000587.4(C7):c.1204C>T (p.Arg402Ter)
NM_000587.4(C7):c.253del (p.Cys85fs)
NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)
NM_001003722.2(GLE1):c.1685dup (p.Gln563fs)
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
NM_001013838.3(CARMIL2):c.1352_1382del (p.Pro451fs)
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001042545.2(LTBP4):c.942T>A (p.Cys314Ter)
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met) rs1057524670
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
NM_001174089.2(SLC4A11):c.2089_2092del (p.Phe697fs) rs1377933433
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001352027.3(PHF21A):c.262C>T (p.Gln88Ter)
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001361.5(DHODH):c.248_261del (p.Leu83fs) rs776973679
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)
NM_001372.4(DNAH9):c.1733del (p.Leu578fs)
NM_001372.4(DNAH9):c.4995_4998del (p.Phe1666fs)
NM_001374385.1(ATP8B1):c.212del (p.Arg71fs)
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys) rs2042442594
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
NM_001385012.1(NBEA):c.433C>T (p.Arg145Ter) rs1215568155
NM_001386140.1(MTTP):c.399dup (p.Glu134fs)
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001655.5(ARCN1):c.1303C>T (p.Arg435Ter) rs2135556662
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.877del (p.Met293fs)
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) rs1645575465
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1995+1G>T rs2136556600
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001851.6(COL9A1):c.1178del (p.Pro393fs) rs1482734025
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs) rs1200526412
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_002016.2(FLG):c.1297_1298del (p.Asp433fs) rs761877421
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002299.4(LCT):c.4967_4976del (p.Asn1656fs) rs2077596325
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_002439.5(MSH3):c.1060dup (p.Val354fs) rs1580553669
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs) rs766768674
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003383.5(VLDLR):c.826C>T (p.Arg276Ter)
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter) rs372939605
NM_003907.3(EIF2B5):c.203T>C (p.Leu68Ser) rs113994044
NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004425.4(ECM1):c.233del (p.Pro78fs) rs768474010
NM_004444.5(EPHB4):c.1609C>T (p.Gln537Ter) rs2116435260
NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter)
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004744.5(LRAT):c.217_218del (p.Met73fs) rs1560870755
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004820.5(CYP7B1):c.730A>T (p.Lys244Ter)
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr) rs372272045
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs) rs1057517353
NM_005912.3(MC4R):c.418del (p.Leu140fs) rs2143966828
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005984.5(SLC25A1):c.520G>T (p.Glu174Ter) rs139862803
NM_005993.4(TBCD):c.1150_1171del rs751754677
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006031.6(PCNT):c.8544del (p.Ala2849fs) rs1266152010
NM_006147.4(IRF6):c.133del (p.Arg45fs) rs1571986293
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) rs1057520738
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter) rs781699886
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer) rs1236291370
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) rs1724342112
NM_006231.4(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491
NM_006348.5(COG5):c.96del (p.Cys33Valfs) rs1554464495
NM_006390.4(IPO8):c.1069dup (p.Ser357fs)
NM_006516.4(SLC2A1):c.276-2A>G
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006721.4(ADK):c.564del (p.Thr190fs)
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007103.4(NDUFV1):c.296G>A (p.Trp99Ter)
NM_007186.6(CEP250):c.2647del (p.Glu883fs)
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs) rs1554732623
NM_012233.3(RAB3GAP1):c.1185_1186del (p.Gly396fs)
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter) rs568942029
NM_013432.5(TONSL):c.529C>T (p.Gln177Ter)
NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)
NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly) rs774102273
NM_014270.5(SLC7A9):c.49C>T (p.Gln17Ter) rs1394513127
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter) rs776321294
NM_014822.4(SEC24D):c.2977C>T (p.Arg993Ter)
NM_015087.5(SPART):c.776del (p.Asp259fs)
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015378.4(VPS13D):c.10818_10821del (p.Gly3607fs)
NM_015599.3(PGM3):c.398_413del (p.Ser133fs) rs1404084330
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs) rs1135401749
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016213.5(TRIP4):c.180del (p.Gly61fs) rs1446427502
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016648.4(LARP7):c.1077_1078del (p.His359fs)
NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017875.4(SLC25A38):c.122_123del (p.Ser41fs)
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.40+1del
NM_018006.5(TRMU):c.248+1G>A
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) rs185005213
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018699.4(PRDM5):c.1132del (p.Cys378fs)
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020223.4(FAM20C):c.1135G>A (p.Gly379Arg)
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_021008.4(DEAF1):c.926del (p.Leu309fs) rs1417226023
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del) rs1554086554
NM_021975.4(RELA):c.706C>T (p.Arg236Ter) rs1856484601
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter)
NM_024996.7(GFM1):c.690_693del rs778902849
NM_025009.5(CEP135):c.3144_3147del (p.His1048fs)
NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025193.4(HSD3B7):c.890del (p.Phe297fs) rs886043511
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_032119.4(ADGRV1):c.1176_1179del (p.Leu393fs) rs1166741724
NM_032608.7(MYO18B):c.530del (p.Pro177fs) rs748007891
NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)
NM_033026.6(PCLO):c.1839_1840delinsAA (p.Cys613_Gln614delinsTer)
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033380.3(COL4A5):c.385-2A>G rs2066062676
NM_053274.3(GLMN):c.844_847del (p.Leu282fs) rs773060450
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_139027.6(ADAMTS13):c.1393_1394del (p.Ala465fs) rs1564422441
NM_144672.4(OTOA):c.2102del (p.Ile701fs)
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_147191.1(MMP21):c.240dup (p.Lys81fs) rs886041273
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs) rs1195644432
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_177438.3(DICER1):c.4405_4406del (p.Leu1469fs) rs1064795904
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)
NM_181507.2(HPS5):c.2375del (p.Glu792fs)
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs) rs759033144
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter) rs935159456
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116

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.