ClinVar Miner

Variants from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center with conflicting interpretations

Location: Korea, Republic of  Primary collection method: reference population
Minimum review status of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center:
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
136 62 0 52 81 3 56 168

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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center pathogenic likely pathogenic uncertain significance likely benign benign affects confers sensitivity risk factor
pathogenic 0 2 3 1 0 0 1 0
likely pathogenic 45 0 20 5 8 0 0 0
uncertain significance 29 9 0 48 58 1 0 1
likely benign 0 0 2 0 4 0 0 0
benign 0 0 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 78
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 9 0 19 32 0 16 67
Illumina Laboratory Services, Illumina 0 31 0 5 37 0 14 56
Mendelics 0 12 0 6 25 0 9 40
OMIM 0 13 0 19 0 2 15 36
Natera, Inc. 0 10 0 11 13 0 3 27
Baylor Genetics 0 10 0 14 0 0 9 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 6 0 12 0 0 4 16
Counsyl 0 13 0 2 5 0 8 15
Genome-Nilou Lab 0 13 0 3 6 0 3 12
Fulgent Genetics, Fulgent Genetics 0 11 0 8 0 0 2 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 8 0 1 10
3billion 0 8 0 6 0 0 4 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 3 0 2 6
Revvity Omics, Revvity 0 6 0 3 0 0 3 6
Myriad Genetics, Inc. 0 3 0 4 0 0 2 6
GeneDx 0 3 0 1 4 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 3 0 0 2 5
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 3 0 0 5
All of Us Research Program, National Institutes of Health 0 5 0 0 2 0 2 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 1 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 2 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 2 0 0 3
Sharing Clinical Reports Project (SCRP) 0 1 0 0 3 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 2 0 0 3
CSER _CC_NCGL, University of Washington 0 2 0 0 2 0 1 3
Color Diagnostics, LLC DBA Color Health 0 1 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 1 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 2 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 2 0 1 0 0 2 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 0 1 1 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 2 0 0 0 2
Ambry Genetics 0 2 0 0 2 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 0 0 0 2 2
GeneReviews 0 17 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 1 0 1 2
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
CFTR2 0 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 2 0 0 0 0 1 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 0 0 0 0 0 1 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Pars Genome Lab 0 1 0 0 1 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 0 0 1
DASA 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 1 0 0 1
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000150.4(FUT6):c.739G>A (p.Glu247Lys) rs17855739 0.11967
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00076
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_052872.4(IL17F):c.254+1G>T rs117796773 0.00070
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly) rs8179206 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) rs1800028 0.00057
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00010
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00004
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) rs776813259 0.00004
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00003
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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