ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
463 1740 0 252 255 11 35 551

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 22 3 0 2 0
likely pathogenic 12 0 6 0 0 0
uncertain significance 10 14 0 143 44 0
likely benign 0 0 50 0 123 0
benign 1 0 19 95 0 0
other 3 0 2 1 4 1

All variants with conflicting interpretations #

Total variants: 551
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000346.4(SOX9):c.685+8G>A rs117696751
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.-4G>C rs369326781
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1210-11T>G rs73715573
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.849-8A>G rs765336852
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.11311+1641C>T rs140804168
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.11312-4319G>A rs72648913
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.87707-4G>T rs201770959
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1458-13C>G rs371772243
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075
NM_001457.4(FLNB):c.4222+8A>G rs190025781
NM_001457.4(FLNB):c.4390+8T>A rs377095569
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.2410-7C>T rs767041085
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004006.2(DMD):c.10677T>C (p.Ile3559=) rs765950547
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.31+36949C>T rs182597890
NM_004006.2(DMD):c.3419A>G (p.His1140Arg) rs201297190
NM_004006.2(DMD):c.3951G>A (p.Glu1317=) rs199643655
NM_004006.2(DMD):c.5586+9G>A rs200025478
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.2(DMD):c.9165G>A (p.Thr3055=) rs137905486
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.7(HSPG2):c.1998+9C>T rs377228309
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) rs142416150
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_012224.3(NEK1):c.1081-15dup rs398124255
NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.3(NEK1):c.594A>G (p.Thr198=) rs373252814
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014920.4(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310
NM_015850.4(FGFR1):c.1092G>A (p.Pro364=) rs56174879
NM_016169.3(SUFU):c.600C>T (p.Ile200=) rs149513330
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021939.3(FKBP10):c.246-5C>G rs140027863
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_032043.2(BRIP1):c.249A>G (p.Gln83=) rs45528833
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858
NM_032119.4(ADGRV1):c.22+9T>C rs368604803
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240
NM_032415.6(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713
NM_182961.4(SYNE1):c.20200-3T>C rs770710698
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
Single allele
UGT1A1*6 rs4148323

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