ClinVar Miner

Variants from Knight Diagnostic Laboratories, Oregon Health and Sciences University with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
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
160 173 26 98 43 5 38 176

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.

All submitters
Knight Diagnostic Laboratories, Oregon Health and Sciences University pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other
pathogenic 24 50 16 1 1 0 1 2 1
likely pathogenic 43 2 17 3 2 1 0 2 1
uncertain significance 3 1 0 32 14 0 0 0 0
likely benign 0 0 3 0 3 0 0 0 0
benign 0 0 2 3 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 81
Download table as spreadsheet
Submitter 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
Invitae 0 105 0 21 23 0 13 56
Illumina Clinical Services Laboratory,Illumina 0 70 0 10 14 0 5 29
GeneReviews 0 30 24 4 0 0 0 28
OMIM 0 75 0 14 0 3 1 18
Counsyl 0 13 0 12 3 0 3 18
Mendelics 0 24 0 4 6 0 3 13
Baylor Genetics 0 51 0 6 1 0 2 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 45 0 7 0 0 1 8
GeneDx 0 29 0 3 5 0 0 8
Genetic Services Laboratory, University of Chicago 0 23 0 6 0 1 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 23 0 3 1 1 2 7
Color Health, Inc 0 15 0 5 1 0 1 7
Myriad Women's Health, Inc. 0 43 0 7 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 40 0 5 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 1 1 0 0 4 6
Natera, Inc. 0 33 0 3 0 0 2 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 14 0 2 1 0 2 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 17 0 1 2 0 1 4
Ambry Genetics 0 21 0 4 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 13 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 17 0 3 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 0 0 0 4 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 2 0 0 2 4
Broad Institute Rare Disease Group, Broad Institute 0 6 0 3 0 0 1 4
GeneKor MSA 0 4 0 2 0 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 12 0 0 2 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 3 0 0 0 3
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 3 0 0 3
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 9 0 1 0 0 1 2
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 1 0 0 1 2
Fulgent Genetics,Fulgent Genetics 0 38 0 2 0 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 0 3 0 0 1 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 2 0 0 0 2
True Health Diagnostics 0 4 0 1 0 1 0 2
Reproductive Health Research and Development,BGI Genomics 0 12 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 6 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 0 1 0 0 1
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 1 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 1 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 3 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 7 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories,University of Michigan 0 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 5 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 5 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 13 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 1 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 4 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 7 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 2 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 9 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 5 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 17 0 1 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University 0 0 0 1 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 1 0 0 0 1
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 176
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000059.3(BRCA2):c.7995T>C (p.Asp2665=) rs200757418
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000250.2(MPO):c.2031-2A>C rs35897051
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001079823.2(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002474.3(MYH11):c.5787-4707C>A rs111588143
NM_002474.3(MYH11):c.5787-4708C>G rs200884440
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003001.5(SDHC):c.*78G>A rs182629842
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_005105.5(RBM8A):c.67+32G>C rs201779890
NM_005327.5(HADH):c.676T>C (p.Tyr226His) rs146036912
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032682.6(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) rs137853120
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
NM_201596.3(CACNB2):c.121-4T>G rs74120235
Single allele
UGT1A1*6 rs4148323

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