ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "likely pathogenic" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 74
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016

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