ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CeGaT Center for Human Genetics Tuebingen and "uncertain significance" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 432
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) rs141476300 0.00030
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_007374.3(SIX6):c.473A>C (p.Lys158Thr) rs749617848 0.00013
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln) rs201627097 0.00008
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00004
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) rs766452597 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys) rs374117599 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln) rs766717305 0.00002
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.755G>T (p.Cys252Phe) rs1372204515 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys) rs773740053 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln) rs758877243 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) rs1255262851 0.00001
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960 0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile) rs1407509439 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006907.4(PYCR1):c.797+2T>C rs768235246 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007289.4(MME):c.1753G>A (p.Glu585Lys) rs757277227 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter) rs771831816 0.00001
NM_020745.4(AARS2):c.959C>T (p.Ala320Val) rs201471937 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_152305.3(POGLUT1):c.922T>C (p.Trp308Arg) rs763045710 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup) rs769920627
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln) rs2048199652
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe) rs199473613
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu) rs1570394071
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) rs745454291
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000944.5(PPP3CA):c.700G>C (p.Asp234His) rs2110249848
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001002010.5(NT5C3A):c.895-2A>G rs1583884979
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser) rs2092338268
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001080449.3(DNA2):c.1244del (p.Cys415fs)
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp) rs377518755
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs) rs1664228420
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001673.5(ASNS):c.1283A>G (p.Tyr428Cys) rs1791279467
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu) rs1882538642
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg) rs2071779127
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe) rs1925561449
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs) rs747530550
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) rs281875197
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003332.4(TYROBP):c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC (p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArgAspGlyArg) rs762708303
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs) rs752784904
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala) rs2150526768
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004928.3(CFAP410):c.96+4del rs1268187387
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005861.4(STUB1):c.824del (p.Leu275fs) rs2039704654
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe) rs2081163988
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_014249.4(NR2E3):c.223G>T (p.Val75Leu) rs750284532
NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014975.3(MAST1):c.1565G>A (p.Gly522Glu) rs1323140691
NM_014989.7(RIMS1):c.3194+1G>A rs1057519205
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) rs768574664
NM_015713.5(RRM2B):c.790-2A>G rs1441534206
NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del) rs1485416933
NM_016247.4(IMPG2):c.3713+5G>A rs1706250496
NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser) rs1584251663
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser) rs2146061616
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val) rs754415797
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs) rs1447618526
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) rs1415925468
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_030773.4(TUBB1):c.745G>C (p.Asp249His) rs2091981798
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro) rs754120063
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032833.5(PPP1R15B):c.1973G>A (p.Arg658His) rs759466766
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg) rs1172866556
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_139242.4(MTFMT):c.645+3A>G
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn) rs1574266171
NM_173689.7(CRB2):c.597_600delinsTCATGTCAACGTGCCCTGGTCAACGGGCACCCGT (p.His200_Asp201insValAsnValProTrpSerThrGlyThrArg) rs2132756010
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr) rs2146375487
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559
NM_176869.3(PPA2):c.939+2T>C rs757950857
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln) rs1332489637
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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.