ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and OMIM

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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 Variants with at least 2 submissions 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 kind of conflict
0 164 0 17 15 19 55 104

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.

pathogenic uncertain significance benign protective risk factor other
pathogenic 0 1 1 3 1 5
likely pathogenic 17 0 0 0 1 0
uncertain significance 18 0 0 0 3 0
likely benign 17 9 0 0 4 0
benign 18 6 0 0 3 0

All variants with conflicting interpretations #

Total variants: 104
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000335.4(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001128177.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_007130.3(ZNF41):c.332C>T (p.Pro111Leu) rs104894955
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018389.4(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_133645.3(MTO1):c.1505G>A (p.Arg502His) rs201544686
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
m.1291T>C rs267606620
m.15497G>A rs199951903
m.4295A>G rs121434467
m.4336T>C rs41456348

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