ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Illumina Laboratory Services, Illumina and "uncertain significance" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 63
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001356.5(DDX3X):c.1676T>A (p.Leu559His) rs1064794993
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) rs563607795
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele

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