ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City and "uncertain significance" from any submitter

Minimum review status of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) rs1229969030 0.00001
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

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