ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 101
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HGVS dbSNP
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000059.3(BRCA2):c.681+4A>G rs397507884
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.3(MEFV):c.2040G>A rs28940580
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2082G>A rs28940578
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000397.3(CYBB):c.389G>C (p.Arg130Pro) rs193922448
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.194+2T>C rs148954387
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_032682.6(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_144696.6(AXDND1):c.3032-21A>T rs775006954
NM_174936.3(PCSK9):c.286C>T (p.Arg96Cys) rs185392267
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600

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