ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre and "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre: Collection method of the submission from Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 70
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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_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00046
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000016.6(ACADM):c.946-6T>G rs765793260 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397 0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NC_000018.9:g.77748581_77748614del34 rs535089924
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243

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