ClinVar Miner

Variants from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
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
278 1105 11 400 175 6 37 512

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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 10 49 16 1 1 0 0 1 0
likely pathogenic 14 1 2 0 0 0 0 0 0
uncertain significance 2 0 0 10 4 0 0 0 1
likely benign 4 2 106 0 209 0 1 0 1
benign 9 3 56 128 0 1 0 0 1

Submitter to submitter summary #

Total submitters: 85
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
Illumina Clinical Services Laboratory,Illumina 0 706 0 124 85 0 1 210
Invitae 0 193 0 111 13 3 2 129
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 626 0 65 3 0 2 70
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 358 0 69 0 0 0 69
Counsyl 0 115 0 48 4 0 0 52
Mendelics 0 97 0 42 3 0 1 46
Breast Cancer Information Core (BIC) (BRCA2) 0 77 0 0 25 0 5 30
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 77 0 26 1 0 0 27
Natera, Inc. 0 114 0 21 4 0 0 25
Breast Cancer Information Core (BIC) (BRCA1) 0 66 0 0 18 0 3 21
GeneReviews 0 35 10 1 1 1 7 20
Fulgent Genetics,Fulgent Genetics 0 34 0 17 3 0 0 20
OMIM 0 54 0 3 11 2 3 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 122 0 16 0 0 0 16
Pathway Genomics 0 16 0 13 1 0 0 14
LDLR-LOVD, British Heart Foundation 0 12 0 9 1 0 3 13
Institute of Human Genetics, University of Leipzig Medical Center 0 27 0 5 5 0 3 13
Sharing Clinical Reports Project (SCRP) 0 136 0 7 4 0 1 12
Robarts Research Institute,Western University 0 4 0 12 0 0 0 12
Color Health, Inc 0 10 0 10 1 0 0 11
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 7 0 7 1 0 1 9
Integrated Genetics/Laboratory Corporation of America 0 32 0 5 3 0 0 8
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 195 0 6 0 0 0 6
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 18 0 5 0 0 1 6
Michigan Medical Genetics Laboratories,University of Michigan 0 84 0 5 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 14 0 2 3 0 0 5
Department of Medical Genetics, University Hospital of North Norway 0 0 0 4 1 0 0 5
Fundacion Hipercolesterolemia Familiar 0 12 0 2 3 0 0 5
Baylor Genetics 0 23 0 1 3 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 8 0 3 0 0 1 4
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 3 1 0 0 4
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 10 0 3 1 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 15 0 2 1 0 0 3
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 12 0 0 2 0 1 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 11 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 9 0 2 0 0 1 3
Myriad Women's Health, Inc. 0 19 0 3 0 0 0 3
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 5 0 3 0 0 0 3
GeneDx 0 3 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 2 0 1 1 0 0 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 0 1 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 14 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 13 0 2 0 0 0 2
Iberoamerican FH Network 0 7 0 1 1 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 3 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 1 2
Broad Institute Rare Disease Group, Broad Institute 0 6 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 0 3 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 0 1 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
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 1 0 0 0 1
Phosphorus, Inc. 0 10 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 6 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 4 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 1 0 0 0 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 2 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 1 0 0 0 1
CeMIA 0 1 0 0 1 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
Nilou-Genome Lab 0 4 0 0 1 0 0 1
Pars Genome Lab 0 0 0 0 1 0 0 1
Paris Brain Institute,Inserm - ICM 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 512
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.3(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.8632+1G>T rs397507997
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
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.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.4(BRCA2):c.9257-16T>C rs11571818
NM_000059.4(BRCA2):c.9649-20C>T rs56177715
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.4(MLH1):c.1039-8T>A rs193922367
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.506-17C>T rs561595897
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000258.3(MYL3):c.130-14G>T rs192329378
NM_000258.3(MYL3):c.307+15C>T rs184025552
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3477+19T>C rs375942184
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
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.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.353+16G>A rs572363699
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1359-1G>A rs139617694
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2390-16G>A rs183496025
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000733.3(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515
NM_001105206.3(LAMA4):c.195+144T>C rs147118520
NM_001105206.3(LAMA4):c.196-12T>C rs78871662
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001134363.3(RBM20):c.1275+13A>G rs373230569
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512
NM_001134363.3(RBM20):c.1801-11G>C rs12572941
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001146261.3(SYT14):c.807AGA[1] (p.Glu270del) rs2307890
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001205254.2(OCLN):c.1512G>C (p.Lys504Asn) rs776456723
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470
NM_001297.5(CNGB1):c.1122-15C>T rs2303778
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001482.3(GATM):c.69+13C>T rs573273215
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002691.4(POLD1):c.1138-8A>G rs41544624
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003283.6(TNNT1):c.129-9T>G rs67795913
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) rs149775942
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356
NM_004572.3(PKP2):c.1034+10C>T rs759397762
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007294.3(BRCA1):c.302-3C>G rs80358051
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.4986+6T>C rs80358086
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007297.4(BRCA1):c.-8+8294A>C rs80358064
NM_012179.4(FBXO7):c.122+9G>A rs192327462
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014391.2(ANKRD1):c.-17A>G rs79341122
NM_014391.2(ANKRD1):c.208-16C>T rs79793575
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015192.4(PLCB1):c.2413+9C>T rs138442805
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975
NM_015488.5(PNKD):c.236+1180G>A rs148049021
NM_015548.5(DST):c.739C>G (p.Pro247Ala) rs151271595
NM_015575.4(GIGYF2):c.3630_3632del (p.Gln1216del) rs10555297
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016169.3(SUFU):c.910+14C>T rs202247757
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847
NM_016373.4(WWOX):c.517-108230A>G rs77067228
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_017775.4(TTC19):c.313-4T>C rs374666326
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018136.5(ASPM):c.3742-10T>G rs41299587
NM_020247.5(COQ8A):c.1573-20C>G rs2297416
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841
NM_020433.5(JPH2):c.380-6C>T rs201197277
NM_020433.5(JPH2):c.380-9C>G rs111987307
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020529.2(NFKBIA):c.548-3C>T rs2233418
NM_020774.3(MIB1):c.1830-18T>C rs201761957
NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) rs200035428
NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met) rs141353229
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606
NM_022089.4(ATP13A2):c.*120A>T rs41273151
NM_022089.4(ATP13A2):c.106-8G>A rs200587951
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys) rs200292361
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032578.3(MYPN):c.1245+20A>G rs111634581
NM_032578.3(MYPN):c.1246-19G>A rs75739924
NM_032578.3(MYPN):c.3075+20C>T rs377273417
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474
NM_032578.4(MYPN):c.1460-14T>A rs201156035
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308
NM_032578.4(MYPN):c.2925+9G>C rs12241644
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_032975.4(DTNA):c.1492-10G>T rs192561043
NM_032975.4(DTNA):c.1910+14G>A rs76713874
NM_032978.7(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_032978.7(DTNA):c.604-14G>T rs397517447
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033118.3(MYLK2):c.1356G>A (p.Glu452=) rs147329431
NM_033118.4(MYLK2):c.1295+4C>A rs113936360
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287
NM_033305.3(VPS13A):c.9400-15A>C rs117688596
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_145046.4(CALR3):c.398-6T>C rs376479901
NM_145046.4(CALR3):c.564del (p.Gln189fs) rs747656642
NM_145046.4(CALR3):c.60C>G (p.Thr20=) rs370721650
NM_145046.4(CALR3):c.861G>A (p.Thr287=) rs118131979
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138

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