ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "pathogenic" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 78
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219

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