ClinVar Miner

List of variants reported as not provided by Genomic Research Center,Shahid Beheshti University of Medical Sciences

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Total variants: 46
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HGVS dbSNP
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.5555T>A (p.Val1852Asp) rs483352930
NM_000059.3(BRCA2):c.6841+80_6841+83del rs11571661
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.2248-127G>C rs235375
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969
NM_000211.5(ITGB2):c.500-11G>T rs55865320
NM_000211.5(ITGB2):c.58+12G>A rs2280965
NM_000211.5(ITGB2):c.742-13G>A rs5030670
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528
NM_000211.5(ITGB2):c.994-47G>A rs2838725
NM_000372.5(TYR):c.-9_-7delinsGG rs483352878
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235
NM_001080478.3(LRRC14B):c.1189G>A (p.Gly397Arg) rs199834750
NM_001145809.2(MYH14):c.3468-3C>T rs78192108
NM_001172713.2(GOLGA4):c.6240A>T (p.Arg2080Ser) rs11924014
NM_001330227.2(NUCB2):c.-254A>G rs4757506
NM_001352663.1(NUCB2):c.-431G>A rs182903196
NM_004947.5(DOCK3):c.1153C>T (p.Arg385Cys) rs587776362
NM_005013.2(NUCB2):c.-427A>C rs186174
NM_005013.4(NUCB2):c.-166G>C rs214087
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.5074+284C>A rs11654396
NM_007294.3(BRCA1):c.5074+65G>A rs8176235
NM_007294.3(BRCA1):c.5152+66G>A rs3092994
NM_007294.3(BRCA1):c.671-246_671-245insAGG rs5820483
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_020998.3(MST1):c.55C>T (p.Pro19Ser) rs62262686
NM_022336.4(EDAR):c.*42G>T rs7607563
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377
NM_024830.5(LPCAT1):c.1235G>T (p.Cys412Phe) rs587776361
NM_033027.4(CSRNP1):c.1432C>T (p.Leu478Phe) rs147162469
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509
NM_173658.4(ZNF660):c.721C>T (p.Arg241Cys) rs587776368
NM_194293.4(XIRP1):c.352G>A (p.Val118Met) rs115823205

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