ClinVar Miner

List of variants reported as likely pathogenic by Eurofins Ntd Llc (ga)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 802
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00283
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00080
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00073
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00065
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00058
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00027
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225 0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00024
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00018
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00016
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00016
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00007
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00006
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter) rs1366267146 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00005
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00005
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005989.4(AKR1D1):c.261+1G>T rs201988060 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001242957.3(MAK):c.156+2T>C rs1201940872 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00002
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) rs1163473923 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00002
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000089.4(COL1A2):c.2656G>A (p.Gly886Ser) rs886043796 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256 0.00001
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) rs794727708 0.00001
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187 0.00001
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00001
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) rs368790885 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000282.4(PCCA):c.1747-3C>G rs1555455109 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) rs1553556116 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) rs398123700 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys) rs752992432 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter) rs374453035 0.00001
NM_005787.6(ALG3):c.444+1G>T rs748878963 0.00001
NM_005989.4(AKR1D1):c.580-1G>A rs749744865 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter) rs1422497202 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_138694.4(PKHD1):c.682A>G (p.Ser228Gly) rs398124491 0.00001
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly) rs398124581 0.00001
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) rs398124604 0.00001
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267 0.00001
NM_201548.5(CERKL):c.239-1G>A rs1559100465 0.00001
NM_213599.3(ANO5):c.2521-1del rs752982710 0.00001
NC_000001.11:g.229432350C>A rs727503797
NC_000002.12:g.178552644_178552645del rs773840992
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NC_000019.10:g.1221994T>G rs727504171
NM_000016.6(ACADM):c.253G>A (p.Gly85Ser) rs398123075
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser) rs398123080
NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) rs794727475
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) rs727503786
NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) rs398123103
NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) rs398123104
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) rs797044611
NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser) rs797044610
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) rs1569550143
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1745+5G>C rs886042903
NM_000070.3(CAPN3):c.1914_1914+18del rs1555422851
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000088.4(COL1A1):c.1318G>A (p.Gly440Ser) rs794727319
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2588G>C (p.Gly863Ala) rs886043749
NM_000088.4(COL1A1):c.2930G>T (p.Gly977Val) rs886042308
NM_000088.4(COL1A1):c.3127G>A (p.Gly1043Arg) rs886044125
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) rs72645353
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala) rs794727470
NM_000089.4(COL1A2):c.2189G>T (p.Gly730Val) rs1562905224
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_000089.4(COL1A2):c.2738G>T (p.Gly913Val) rs886042129
NM_000089.4(COL1A2):c.3793T>C (p.Ser1265Pro) rs886044109
NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val) rs794727181
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000123.4(ERCC5):c.2678+1G>A rs886044319
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) rs398123177
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) rs749047676
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.291C>G (p.Asn97Lys) rs398123180
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) rs398123188
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys) rs749227753
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000169.3(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.3(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.3(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.3(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.3(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.3(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000179.3(MSH6):c.3909_3913dup (p.Leu1305fs) rs1572747149
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000193.4(SHH):c.1040C>G (p.Pro347Arg) rs886042458
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.479C>A (p.Pro160His) rs104894856
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) rs794727017
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3671T>G (p.Phe1224Cys) rs886043744
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro) rs794727137
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000282.4(PCCA):c.2118+1G>A rs886043045
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) rs886042089
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) rs398123307
NM_000303.3(PMM2):c.652C>G (p.His218Asp) rs398123310
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000359.3(TGM1):c.758-2A>G rs886042116
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val) rs398123347
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1A>C (p.Met1Leu) rs794726886
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr) rs727503954
NM_000434.4(NEU1):c.1230_1234delinsGCCAAA (p.Ser410fs) rs886042881
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_000458.4(HNF1B):c.1561del (p.Gln521fs) rs764042837
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) rs1559415403
NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter) rs1562842708
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr) rs398123447
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys) rs398123450
NM_000530.8(MPZ):c.270C>G (p.Asp90Glu) rs121913584
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.683G>A (p.Cys228Tyr) rs398123466
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000548.5(TSC2):c.3G>T (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) rs1555802058
NM_000618.5(IGF1):c.220+1G>T rs1566009282
NM_000693.4(ALDH1A3):c.184G>T (p.Glu62Ter) rs1191459372
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000875.5(IGF1R):c.3187-2A>T rs886042346
NM_000939.4(POMC):c.55C>T (p.Gln19Ter) rs757720012
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn) rs1564355642
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001040142.2(SCN2A):c.1178C>A (p.Thr393Lys) rs794727003
NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu) rs886043250
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val) rs398124243
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001082538.3(TCTN1):c.979-2A>G rs886044606
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del) rs1557134792
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp) rs1557136974
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001113378.2(FANCI):c.286dup (p.Glu96fs) rs1567142658
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.4387+2T>A rs759939755
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) rs886042584
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys) rs886042452
NM_001130987.2(DYSF):c.888+1G>A rs886044377
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001142800.2(EYS):c.9400del (p.Val3134fs) rs886042614
NM_001146079.2(CLDN14):c.401del (p.Val134fs) rs1555841710
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1603273685
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.3646G>A (p.Glu1216Lys) rs398123590
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) rs121917949
NM_001165963.4(SCN1A):c.5389G>C (p.Ala1797Pro) rs794727413
NM_001170629.2(CHD8):c.5127+1G>A rs794727436
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001193315.2(VIPAS39):c.734+2T>C rs1566731055
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter) rs747749610
NM_001197104.2(KMT2A):c.6034A>T (p.Lys2012Ter) rs782727635
NM_001206979.2(NR1H4):c.733-2A>G rs1566464880
NM_001206979.2(NR1H4):c.831+1G>A rs1555335782
NM_001206979.2(NR1H4):c.923dup (p.Leu309fs) rs770757947
NM_001258392.3(CLPB):c.1123-2A>G rs1555086480
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.104087del (p.Pro34696fs) rs1553489404
NM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs) rs1558999779
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs) rs886043462
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter) rs886044505
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1575175498
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs) rs797044683
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs) rs886042414
NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter) rs794727387
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs) rs1553670762
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56294del (p.Thr18765fs) rs886044096
NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs) rs1559669161
NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs) rs1553665556
NM_001267550.2(TTN):c.56716del (p.Glu18906fs) rs1553663997
NM_001267550.2(TTN):c.58701_58702del (p.Val19567_Ser19568insTer) rs1559614642
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70754del (p.Val23585fs) rs886042441
NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter) rs775374887
NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs) rs1559414146
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) rs763822931
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer) rs797044697
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter) rs368850871
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter) rs1553563519
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) rs794727468
NM_001267550.2(TTN):c.90561del (p.Thr30188fs) rs886044318
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs) rs886042502
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.95009del (p.Arg31670fs) rs1559147521
NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter) rs1559071558
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs) rs886043854
NM_001277115.2(DNAH11):c.6546G>C (p.Lys2182Asn) rs886042733
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001298.3(CNGA3):c.1978C>T (p.Gln660Ter) rs1553450979
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.3985A>G (p.Asn1329Asp) rs794727362
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001349338.3(FOXP1):c.1710_1722+2del rs1559596230
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730
NM_001356.5(DDX3X):c.1712T>C (p.Leu571Ser) rs886043639
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs) rs1553956151
NM_001365536.1(SCN9A):c.5569del (p.Asp1857fs) rs1553472910
NM_001367624.2(ZNF469):c.11496_11505del (p.Ser3833fs) rs1567517877
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001369369.1(FOXN1):c.1195_1225del (p.Cys399fs) rs886043619
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001371596.2(MFSD8):c.1A>T (p.Met1Leu) rs1553957829
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs) rs1555910895
NM_001374385.1(ATP8B1):c.3673del (p.Arg1225fs) rs1568176564
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378609.3(OTOGL):c.3635-2A>G rs1555296476
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001379110.1(SLC9A6):c.524+5G>A rs796053284
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter) rs1560616550
NM_001384732.1(CPLANE1):c.9181_9185+1del rs750972473
NM_001429.4(EP300):c.3671+5_3671+8del rs886042977
NM_001625.4(AK2):c.656del (p.Val219fs) rs1557611080
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) rs794727202
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) rs886043561
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg) rs886042741
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg) rs886043712
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) rs794727438
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) rs794727462
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2355+5G>A rs1555166294
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) rs794727596
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg) rs886044702
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) rs886042849
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg) rs886043540
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) rs794727684
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.3(COL6A1):c.823G>C (p.Gly275Arg) rs1556425467
NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter) rs201035486
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del) rs886042660
NM_001918.5(DBT):c.1447T>C (p.Ter483Arg) rs398123663
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002303.6(LEPR):c.1226C>A (p.Ala409Glu) rs1446132233
NM_002335.4(LRP5):c.883+2_883+3del rs1565347300
NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs) rs768879640
NM_002470.4(MYH3):c.850T>G (p.Tyr284Asp) rs886042111
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002857.4(PEX19):c.595-2A>G rs1557853666
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003289.4(TPM2):c.279G>T (p.Gln93His) rs727504180
NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) rs398123723
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer) rs886044421
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003764.4(STX11):c.473del (p.Lys158fs) rs1554294339
NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs) rs886042851
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_004006.3(DMD):c.8217+18052A>G rs886042109
NM_004006.3(DMD):c.8548-2_8549dup rs1556656895
NM_004100.5(EYA4):c.1341-2A>G rs1276849351
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004278.4(PIGL):c.660+1G>A rs768198327
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser) rs1553553625
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004369.4(COL6A3):c.6355-1G>A rs113605136
NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg) rs398124147
NM_004393.6(DAG1):c.1257del (p.Thr421fs) rs886044452
NM_004393.6(DAG1):c.2597dup (p.Pro867fs) rs1553653948
NM_004393.6(DAG1):c.41del (p.Ser14fs) rs1553648360
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) rs387907231
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004998.4(MYO1E):c.1311del (p.Ile438fs) rs1555411458
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005989.4(AKR1D1):c.843del (p.Glu282fs) rs1562938039
NM_005989.4(AKR1D1):c.93+1G>T rs916587979
NM_005989.4(AKR1D1):c.980G>T (p.Ter327Leu) rs1554394506
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.937C>T (p.His313Tyr) rs886044563
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006017.3(PROM1):c.1077+1G>C rs745495162
NM_006031.6(PCNT):c.3166-2A>C rs774553297
NM_006218.4(PIK3CA):c.311_322del (p.Pro104_Asn107del) rs1553820381
NM_006306.4(SMC1A):c.1279G>A (p.Glu427Lys) rs886044851
NM_006306.4(SMC1A):c.1834G>A (p.Ala612Thr) rs727504164
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.4(SMC1A):c.287G>C (p.Arg96Pro) rs781817340
NM_006494.4(ERF):c.397_407del (p.Pro133fs) rs1568472223
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006517.5(SLC16A2):c.353A>C (p.His118Pro) rs794726933
NM_006517.5(SLC16A2):c.839A>G (p.Tyr280Cys) rs398124231
NM_007118.4(TRIO):c.6157A>T (p.Arg2053Ter) rs1554086647
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) rs139990565
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.116_122del (p.Cys39fs) rs1554732594
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012232.6(CAVIN1):c.199C>T (p.Gln67Ter) rs1555588981
NM_012233.3(RAB3GAP1):c.970dup (p.Leu324fs) rs1231893162
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter) rs1563045683
NM_014639.4(SKIC3):c.3106del (p.Tyr1036fs) rs1554050112
NM_014795.4(ZEB2):c.3241T>A (p.Cys1081Ser) rs886044396
NM_014797.3(ZBTB24):c.1134del (p.Phe378fs) rs1214978641
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015072.5(TTLL5):c.2312C>G (p.Ser771Ter) rs886043466
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs) rs1557578607
NM_015107.3(PHF8):c.2210C>G (p.Ser737Ter) rs797044665
NM_015215.4(CAMTA1):c.4369C>T (p.Arg1457Ter) rs886043243
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs) rs886044257
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter) rs1568383892
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) rs886043994
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017837.4(PIGV):c.781dup (p.Thr261fs) rs1418108487
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter) rs1564338190
NM_018451.5(CPAP):c.3538_3539delinsTG (p.Glu1180Ter) rs1566276461
NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter) rs1560383746
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) rs398124351
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs) rs1564106503
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022437.3(ABCG8):c.63_63+53del rs1553375267
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del) rs886044496
NM_024408.4(NOTCH2):c.1041del (p.Ser346_Cys347insTer) rs1557826721
NM_024408.4(NOTCH2):c.1567+2T>G rs1557825245
NM_024809.5(TCTN2):c.964dup (p.Thr322fs) rs746186338
NM_024915.4(GRHL2):c.1098+1G>A rs886044309
NM_025132.4(WDR19):c.2830_2866del (p.Ile944fs) rs1560541088
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030962.4(SBF2):c.5451+2T>G rs886042830
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_031924.8(RSPH3):c.213del (p.Pro72fs) rs1554289977
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033100.4(CDHR1):c.2246_2253del (p.Arg749fs) rs886044648
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033109.5(PNPT1):c.1661del (p.Ile554fs) rs1553493871
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033337.3(CAV3):c.366dup (p.Leu123fs) rs1553614449
NM_033380.3(COL4A5):c.645+2T>C rs1569490387
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_080680.3(COL11A2):c.1719+3dup rs1554220864
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138694.4(PKHD1):c.10664T>A (p.Ile3555Lys) rs794727819
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_144672.4(OTOA):c.2148C>A (p.Cys716Ter) rs886044667
NM_144991.3(TSPEAR):c.942C>G (p.Tyr314Ter) rs146600721
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153676.4(USH1C):c.2226+2T>C rs1554954858
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp) rs57966821
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172364.5(CACNA2D4):c.165G>A (p.Trp55Ter) rs1284328591
NM_173076.3(ABCA12):c.5128+2T>C rs1553523630
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173560.4(RFX6):c.576C>A (p.Tyr192Ter) rs781291978
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs) rs797044691
NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter) rs886044588
NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs) rs1554455233
NM_182961.4(SYNE1):c.17167C>T (p.Gln5723Ter) rs886044380
NM_182961.4(SYNE1):c.2154del (p.Thr719fs) rs886044155
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val) rs886043103
NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser) rs398124581
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) rs149766077
NM_183050.4(BCKDHB):c.902T>G (p.Val301Gly) rs398124600
NM_183357.3(ADCY5):c.2084G>C (p.Arg695Pro) rs765349480
NM_213599.3(ANO5):c.1013+1G>T rs1335126943
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.2599del (p.Arg867fs) rs886042556
Single allele

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.