ClinVar Miner

Variants from Myriad Women's Health, Inc. with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Myriad Women's Health, Inc.: Collection method of the submission from Myriad Women's Health, Inc.:
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
822 242 81 148 0 1 25 231

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
Myriad Women's Health, Inc. pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 81 52 18 2 1 0
likely pathogenic 96 0 3 0 0 1
uncertain significance 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 66
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
GeneReviews 0 94 81 34 0 0 0 115
Invitae 0 220 0 57 0 0 2 59
Integrated Genetics/Laboratory Corporation of America 0 224 0 39 0 0 0 39
OMIM 0 239 0 33 0 0 0 33
Baylor Genetics 0 125 0 32 0 0 0 32
Fulgent Genetics,Fulgent Genetics 0 88 0 26 0 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 101 0 18 0 0 5 23
Natera, Inc. 0 160 0 21 0 0 0 21
Mendelics 0 77 0 5 0 0 4 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 54 0 8 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 43 0 7 0 0 0 7
CFTR2 0 72 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 21 0 3 0 0 3 6
SIB Swiss Institute of Bioinformatics 0 6 0 5 0 0 1 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 17 0 5 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 20 0 5 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 4 0 0 1 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 27 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 4 0 0 1 5
CFTR-France 0 63 0 5 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 12 0 4 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 11 0 3 0 0 1 4
ClinGen PAH Variant Curation Expert Panel 0 14 0 4 0 0 0 4
Reproductive Health Research and Development,BGI Genomics 0 22 0 3 0 1 0 4
Genetic Services Laboratory, University of Chicago 0 30 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 10 0 1 0 0 2 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 16 0 3 0 0 0 3
Research and Development, ARUP Laboratories 0 15 0 3 0 0 0 3
Leiden Open Variation Database 0 3 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 19 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 9 0 3 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 8 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 10 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 17 0 2 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 11 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 20 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 24 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 36 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 2 0 0 0 2
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 17 0 2 0 0 0 2
Clinical Biochemistry Laboratory,Health Services Laboratory 0 6 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 3 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 25 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
National Center for Biotechnology Information, National Institutes of Health 0 1 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 7 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 7 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurology Department,Peking University First Hospital 0 1 0 0 0 0 1 1
Kasturba Medical College, Manipal University 0 2 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 2 0 1 0 0 0 1
Pediatric Metabolic Diseases,Hacettepe University 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 3 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Belal Azab Laboratory,The University of Jordan 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 231
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.786G>A (p.Trp262Ter) rs80338899
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2082G>A rs28940578
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) rs104894928
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) rs121908754
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1766+1G>T rs121908748
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs6445
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_015166.3(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015166.3(MLC1):c.278C>T (p.Ser93Leu) rs80358245
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_139202.3(MLC1):c.135dupC rs80358241
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NR_003051.3(RMRP):n.71A>G rs199476103

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