ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Mayo Clinic Laboratories, Mayo Clinic and "likely pathogenic" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 454
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 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_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000519.3(HBD):c.-118C>T rs549964658 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) rs372520221 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 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_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) rs373569027 0.00001
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) rs727503443 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_172351.3(CD46):c.287-2A>G rs759813089 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000021.4(PSEN1):c.849T>G (p.Phe283Leu)
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8202dup (p.Cys2735fs) rs2136695766
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser) rs1555394626
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del) rs770455024
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn) rs147034239
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.392dup (p.Val133fs)
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter) rs1305222903
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_006208.3(ENPP1):c.715+1G>C
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_013247.5(HTRA2):c.346dup (p.Ala116fs)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_194454.3(KRIT1):c.1730+4_1730+7del rs1563244596
Single allele
UGT1A1*37 rs3064744

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