ClinVar Miner

Variants with conflicting interpretations studied for See cases

Minimum review status of the submission for See cases: Collection method of the submission for See cases:
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
24410 825 13 227 206 5 141 541

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 conditions
See cases pathogenic likely pathogenic uncertain significance likely benign benign drug response protective other
pathogenic 0 64 32 4 5 1 1 3
likely pathogenic 134 1 48 3 4 0 1 1
uncertain significance 51 25 11 111 57 1 1 2
likely benign 3 3 54 1 26 0 1 1
benign 4 1 32 16 0 0 0 0

Condition to condition summary #

Total conditions: 159
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Condition 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
not provided 0 503 2 190 137 2 90 399
not specified 0 96 0 16 31 0 27 70
See cases 25431 280 11 12 30 0 22 65
Cardiovascular phenotype 0 49 0 3 11 0 2 16
Malignant hyperthermia, susceptibility to, 1 0 0 0 1 3 0 1 5
EP300-related condition 0 0 0 3 1 0 0 4
Papillary renal cell carcinoma, sporadic 0 0 0 3 0 0 0 3
Spastic paraplegia 0 1 0 1 3 0 1 3
Breast and/or ovarian cancer 0 1 0 1 1 0 0 2
Epileptic encephalopathy 0 4 0 2 0 0 1 2
Inherited Immunodeficiency Diseases 0 2 0 2 0 0 1 2
POLR3B-related condition 0 1 0 0 2 0 0 2
RYR1-Related Disorders 0 5 0 2 0 0 0 2
Rare genetic deafness 0 5 0 1 0 0 1 2
SPATA5L1-associated disorder 0 0 0 2 0 0 0 2
TNXB-related condition 0 0 0 0 2 0 0 2
16p13.11 recurrent microdeletion syndrome 0 0 0 1 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 1 0 0 1 1
1p13.3 deletion syndrome 0 0 0 1 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 1 0 0 1 1
22q13.3 interstitial deletion 0 0 0 1 0 0 1 1
ADAM22-related condition 0 0 0 1 0 0 0 1
ANK1-related condition 0 0 0 0 1 0 0 1
ARID1B-related condition 0 1 0 1 0 0 0 1
ATAD3 gene cluster related condition 0 0 0 0 1 0 1 1
ATN1-related condition 0 0 0 0 1 0 0 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal brain morphology 0 0 0 1 0 0 0 1
Adult polyglucosan body neuropathy 0 0 0 1 0 0 0 1
Aminoaciduria 0 0 0 1 0 0 1 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1 1
Arthrogryphosis 0 0 0 0 1 0 1 1
Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Secondary microcephaly 0 0 0 0 1 0 1 1
Atypical behavior; Moderate global developmental delay 0 0 0 0 1 0 1 1
Autistic behavior; Absent speech 0 0 0 0 1 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 1 1
Autosomal recessive retinitis pigmentosa 0 0 0 1 0 0 0 1
BAP1-associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
BAZ2B-related disorder 0 0 0 0 0 0 1 1
BUB1B-related condition 0 0 0 0 1 0 0 1
CAVIN1-related condition 0 0 0 0 1 0 0 1
CFTR-related disorders 0 2 0 0 0 0 1 1
CIC-related condition 0 1 0 0 1 0 0 1
CLCN4-related disorder 0 0 0 0 0 0 1 1
CLN8-related condition 0 0 0 0 1 0 0 1
COL7A1-related condition 0 1 0 0 0 0 1 1
COL7A1-related disorders 0 1 0 1 0 0 0 1
COLEC10-related condition 0 0 0 1 0 0 0 1
CYBA-related condition 0 0 0 0 1 0 0 1
Cancer progression and tumor cell motility 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type I 0 0 0 1 0 0 0 1
DCTN1-Related Disorders 0 0 0 0 0 0 1 1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 0 0 0 0 0 0 1 1
DHCR7-related condition 0 1 0 1 0 0 0 1
DONSON-related condition 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 1 0 0 1 1
Delayed speech and language development 0 0 0 1 0 0 1 1
Developmental disorder 0 1 0 0 1 0 0 1
Duodenal stenosis 0 0 0 1 0 0 0 1
Dysmorphic features 0 0 0 0 0 0 1 1
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma 0 0 0 0 0 0 1 1
ENG-Related Disorders 0 0 0 1 0 0 0 1
EVI2A-related condition 0 0 0 1 0 0 0 1
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 0 0 0 1 0 0 1
Epileptic spasm 0 0 0 1 0 0 0 1
F8-related condition 0 0 0 0 0 0 1 1
FBN1-related condition 0 2 0 0 1 0 0 1
FGFR4-related condition 0 0 0 0 1 0 0 1
Flexion contracture 0 0 0 0 0 0 1 1
Focal-onset seizure 0 0 0 1 0 0 1 1
Fundus albipunctatus, autosomal recessive 0 0 0 1 0 0 0 1
GBE1-related condition 0 1 0 0 1 0 0 1
GLUD2-related condition 0 0 0 0 1 0 0 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 1 1
Global developmental delay 0 5 0 1 1 0 1 1
Global developmental delay; Expressive language delay; Secondary microcephaly 0 0 0 1 0 0 1 1
Global developmental delay; Failure to thrive 0 0 0 1 0 0 0 1
Global developmental delay; Seizure; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 1 0 1 1
Growth abnormality 0 0 0 0 1 0 1 1
HEMOGLOBIN S 0 0 0 0 0 1 0 1
HEXB-related condition 0 0 0 1 0 0 0 1
HIVEP2-related condition 0 0 0 1 0 0 0 1
Heimler syndrome 2 0 0 0 1 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 0 0 1 0 0 1
Homocystinuria, cblD type, variant 1 0 0 0 0 0 0 1 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 0 0 0 1 0 0 1 1
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 1 1 0 1 1
Intellectual disability, severe 0 0 0 1 0 0 1 1
Internal malformations 0 0 0 0 1 0 1 1
Interstitial 6q microdeletion syndrome 0 0 0 1 0 0 1 1
KMT2C-related condition 0 1 0 0 1 0 0 1
LPIN2-related condition 0 0 0 0 1 0 0 1
Luteinizing hormone resistance, female 0 0 0 1 0 0 0 1
MBD5 associated neurodevelopmental disorder 0 0 0 1 0 0 1 1
MECP2-related condition 0 1 0 0 1 0 0 1
MED13L-related condition 0 0 0 0 1 0 0 1
MEFV-related condition 0 0 0 0 1 0 0 1
MKS1-related condition 0 0 0 0 1 0 1 1
MSH6-related condition 0 0 0 0 1 0 0 1
MT-ATP6-related primary mitochondrial disease 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 1 0 0 1 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 0 0 0 1 0 0 0 1
Multiminicore/minicore/multicore disease 0 0 0 0 1 0 0 1
Muscle dystrophy 0 0 0 1 0 0 1 1
Myofibrillar Myopathy, Dominant 0 0 0 0 1 0 0 1
NOTCH3-related condition 0 1 0 1 0 0 0 1
Neurodevelopmental abnormality 0 2 0 1 0 0 0 1
Neurodevelopmental delay 0 7 0 1 0 0 0 1
Noonan-like disorder 0 0 0 1 0 0 0 1
PI Z 0 0 0 0 0 1 0 1
PI Z(AUGSBURG) 0 0 0 0 0 1 0 1
PI Z(TUN) 0 0 0 0 0 1 0 1
POLR1A-related condition 0 0 0 1 0 0 0 1
POLR3-related leukodystrophy 0 1 0 0 0 0 1 1
PPFIA3-related disorder 0 0 0 1 0 0 1 1
PTEN-related condition 0 0 0 0 1 0 0 1
PTPN11-related condition 0 1 0 1 0 0 0 1
PURA Syndrome 0 0 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 1 1
Progressive cerebellar ataxia 0 0 0 1 0 0 0 1
RDH5-related condition 0 0 0 1 0 0 0 1
RHD DEL 0 0 0 1 0 0 1 1
Reclassified - variant of unknown significance 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 1 0 0 1 1
SDK2-related condition 0 0 0 0 1 0 0 1
SFTPA1-related condition 0 0 0 1 0 0 0 1
SKIC2-related condition 0 0 0 0 1 0 0 1
SLC4A10-related neurodevelopmental disorder 0 0 0 1 0 0 1 1
SMAD3-related condition 0 0 0 0 1 0 0 1
Seizure 0 1 0 1 1 0 1 1
Seizure; Self-injurious behavior; Tremor; Intellectual disability, severe; Severe global developmental delay 0 0 0 1 0 0 0 1
Silver Russell Syndrome-related disorder 0 0 0 0 1 0 1 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Splenomegaly; Decreased circulating antibody level 0 0 0 1 0 0 1 1
Susceptibility to severe coronavirus disease (COVID-19) 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1 1
TMEM70-related condition 0 0 0 1 0 0 0 1
TRIT1 Deficiency 0 0 0 1 0 0 0 1
TRRAP-related condition 0 0 0 0 1 0 0 1
Tip-toe gait 0 1 0 1 0 0 0 1
USH2A-Related Disorders 0 0 0 1 0 0 0 1
USH2A-related condition 0 0 0 1 0 0 0 1
VARS2-related condition 0 0 0 0 0 0 1 1
VKORC1-related condition 0 0 0 0 1 0 0 1
WDR37-related condition 0 0 0 0 1 0 0 1
YWHAZ-related neurodevelopmental syndrome 0 0 0 1 0 0 0 1
ZNF331 deletion 0 0 0 0 1 0 1 1
acenocoumarol response - Dosage 0 0 0 0 0 1 0 1
intellectual deficiency; dysmorphy 0 0 0 0 0 0 1 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 1
phenprocoumon response - Dosage 0 0 0 0 0 1 0 1
phenprocoumon response - Toxicity 0 0 0 0 0 1 0 1
warfarin response - Dosage 0 0 0 0 0 1 0 1
warfarin response - Efficacy 0 0 0 0 0 1 0 1
warfarin response - Toxicity 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 541
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HGVS dbSNP gnomAD frequency
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983 0.03160
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001142800.2(EYS):c.6725+10G>A rs140506043 0.00353
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile) rs139554429 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001354930.2(RIPK1):c.1730-15T>C rs113605768 0.00307
NM_001510.4(GRID2):c.2218G>A (p.Val740Ile) rs150846341 0.00306
NM_001365276.2(TNXB):c.11539G>A (p.Gly3847Ser) rs199688928 0.00293
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_015114.3(ANKLE2):c.1961G>A (p.Arg654Gln) rs77116800 0.00268
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu) rs142119277 0.00258
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val) rs61729347 0.00232
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_015425.6(POLR1A):c.4412A>G (p.Glu1471Gly) rs61731718 0.00222
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu) rs144278838 0.00198
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile) rs144662546 0.00189
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_001083962.2(TCF4):c.1351-19G>A rs200963418 0.00162
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000718.4(CACNA1B):c.1543+13G>A rs200007246 0.00151
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_152703.5(SAMD9L):c.1372G>T (p.Ala458Ser) rs140536419 0.00131
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311 0.00123
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_005993.5(TBCD):c.1534-4G>A rs116536514 0.00118
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_006618.5(KDM5B):c.3520G>A (p.Val1174Met) rs143647342 0.00103
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln) rs144141099 0.00098
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_014975.3(MAST1):c.1906+8C>T rs149277170 0.00089
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_018082.6(POLR3B):c.2796C>T (p.His932=) rs141030994 0.00088
NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=) rs145991322 0.00084
NM_022720.7(DGCR8):c.2276C>T (p.Ala759Val) rs148884257 0.00081
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp) rs139188499 0.00079
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn) rs150751460 0.00077
NM_001324418.2(ADAM22):c.659C>G (p.Pro220Arg) rs201142062 0.00076
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg) rs116330917 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) rs78499613 0.00073
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys) rs201937660 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_018082.6(POLR3B):c.2818-14T>C rs370333143 0.00056
NM_033109.5(PNPT1):c.223-9A>T rs202243908 0.00054
NM_020812.4(DOCK6):c.518G>A (p.Arg173Gln) rs373956807 0.00053
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly) rs150801397 0.00051
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys) rs145378071 0.00046
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=) rs141013408 0.00033
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser) rs114070375 0.00028
NM_006031.6(PCNT):c.9099+14G>A rs370266308 0.00027
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_001375524.1(TRRAP):c.634-3C>T rs113339948 0.00024
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro) rs201980005 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=) rs768321160 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=) rs149256584 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_012062.5(DNM1L):c.285C>T (p.His95=) rs374173514 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) rs372356069 0.00014
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile) rs369978695 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_005902.4(SMAD3):c.777C>T (p.Gly259=) rs145414319 0.00013
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln) rs745603844 0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=) rs572061488 0.00012
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001365276.2(TNXB):c.2730G>A (p.Ala910=) rs564894886 0.00011
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp) rs564911507 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_019096.5(GTPBP2):c.881-18G>A rs377499258 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_001003699.4(RREB1):c.1213G>A (p.Gly405Ser) rs146744494 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser) rs766749712 0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln) rs368587743 0.00009
NM_170606.3(KMT2C):c.6910A>G (p.Met2304Val) rs754015217 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp) rs200954931 0.00007
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_001042750.2(STAG2):c.1821+7T>C rs768977301 0.00006
NM_001348768.2(HECW2):c.1240G>C (p.Asp414His) rs764436402 0.00006
NM_001378418.1(TCF20):c.4369G>A (p.Gly1457Arg) rs761096672 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met) rs751573593 0.00006
NM_017934.7(PHIP):c.2667A>T (p.Lys889Asn) rs756471447 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn) rs139165727 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) rs376324027 0.00005
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys) rs372912168 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp) rs376484231 0.00004
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter) rs748994888 0.00004
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly) rs140539843 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr) rs372933587 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=) rs751960243 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del) rs1327484784 0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000163.5(GHR):c.1802_1803del (p.Val601fs) rs777688795 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala) rs72658864 0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp) rs754341326 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001278064.2(GRM1):c.3300C>A (p.Ser1100Arg) rs1227591846 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001394062.1(MACF1):c.21227C>T (p.Pro7076Leu) rs368764004 0.00001
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser) rs755713308 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) rs149010496 0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr) rs796053252 0.00001
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys) rs774910975 0.00001
NM_007317.3(KIF22):c.496C>T (p.Arg166Trp) rs767054899 0.00001
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849 0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=) rs746764976 0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp) rs267606740 0.00001
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro) rs762890510 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter) rs1221890051 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020699.4(GATAD2B):c.874A>G (p.Met292Val) rs138922965 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter) rs756394857 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
GRCh37/hg19 13q21.2-21.31(chr13:61660181-63785757)x3
GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 17p13.3(chr17:525-632905)x3
GRCh37/hg19 17q12(chr17:34822465-36283612)x3
GRCh37/hg19 17q12(chr17:34822465-36410559)x3
GRCh37/hg19 1p33(chr1:49498351-50440974)x1
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1
GRCh37/hg19 2q13(chr2:110504318-111365996)x1
GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3
GRCh37/hg19 Xq21.31(chrX:87837389-88164567)x1
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
GRCh38/hg38 11q22.1(chr11:97849768-98439058)x1
GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3
GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3
GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
GRCh38/hg38 2p25.3(chr2:30341-507042)x3
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
GRCh38/hg38 2q13(chr2:110104900-110201550)x1
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3
GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1
GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3
GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1
GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1
GRCh38/hg38 9p24.3(chr9:204193-295405)x3
GRCh38/hg38 9p24.3(chr9:204193-381489)x3
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1
GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000101.4(CYBA):c.204-4C>A rs377055239
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) rs961681338
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000257.4(MYH7):c.2923-5G>A rs779010466
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn) rs2132232321
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser) rs2135039016
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) rs1889965563
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter) rs1726803653
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg) rs2147471872
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro) rs987032967
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile) rs753223319
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=) rs766944646
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys) rs531230573
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val) rs1064795382
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs) rs1009807148
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu) rs765365713
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375524.1(TRRAP):c.4953+5C>T
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379451.1(BCORL1):c.4381A>G (p.Thr1461Ala)
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del) rs60216939
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser) rs1646670170
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) rs1646670079
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
NM_003193.5(TBCE):c.636_639del (p.Asn212fs) rs1226347591
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003620.4(PPM1D):c.1599C>G (p.Asn533Lys) rs996571214
NM_004183.4(BEST1):c.1100+1G>C rs1434513582
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004544.4(NDUFA10):c.76-2A>G rs917371150
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005148.4(UNC119):c.231C>T (p.Cys77=) rs1037207765
NM_005151.4(USP14):c.233_236del (p.Leu78fs) rs2144233064
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His) rs548583670
NM_005618.4(DLL1):c.845dup (p.Leu283fs) rs760008381
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) rs747485179
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006734.4(HIVEP2):c.5398A>G (p.Ile1800Val) rs2114628187
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys)
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys) rs148221996
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup) rs537998274
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
NM_014023.4(WDR37):c.1103+10G>A rs377333387
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014264.5(PLK4):c.1442G>T (p.Gly481Val) rs1409755064
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter) rs2142767103
NM_014849.5(SV2A):c.865C>T (p.Arg289Ter)
NM_015015.3(KDM4B):c.1336C>T (p.Arg446Trp)
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018263.6(ASXL2):c.2190A>C (p.Glu730Asp) rs1287433846
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs) rs1461665171
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020987.5(ANK3):c.2502G>A (p.Met834Ile) rs2132296500
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_024496.4(IRF2BPL):c.491_492insCGCCGC (p.Ala164_Val165insAlaAla)
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys) rs1240460489
NM_032108.4(SEMA6B):c.1966G>T (p.Glu656Ter) rs747115338
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn) rs2139471533
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg) rs2081548277
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter) rs763743788
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter) rs1564574359
NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del) rs772433974
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
Single allele

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