ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome Diagnostics Laboratory, Amsterdam University Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center: Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_020919.4(ALS2):c.-60-2A>G rs532217889 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter) rs1476453955 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_178452.6(DNAAF1):c.1528+2T>C rs569633512 0.00001
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg) rs2152697481
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu) rs587784155
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.