ClinVar Miner

List of variants reported as benign by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_007293.3(C4A):c.2944+55T>C rs149464899 1.00000
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014694.4(ADAMTSL2):c.2593-115G>A rs2301608 0.55679
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_001080770.2(KIR2DL4):c.41-20A>C rs604076 0.18534
NM_001098844.3(TMEM236):c.667G>A (p.Gly223Arg) rs34460919 0.16179
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.1748-135G>C rs62574223 0.10944
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NC_000020.11:g.30393436C>A rs73621499 0.00285
NM_001379500.1(COL18A1):c.3217-63A>T rs9985095 0.00118
NM_024330.4(SLC27A3):c.1037-28C>T rs3841382 0.00052
NM_001270974.2(HYDIN):c.2768+22G>A rs6499399 0.00044
NM_005915.6(MCM6):c.2428T>C (p.Tyr810His) rs55660827 0.00036
NM_015846.4(MBD1):c.1304C>T (p.Thr435Ile) rs116201949 0.00035
NM_003980.6(MAP7):c.770T>A (p.Ile257Asn) rs150650551 0.00034
NM_024330.4(SLC27A3):c.1037-26T>C rs55834546 0.00033
NM_001136020.3(ICA1):c.804+175T>C rs73674888 0.00011
NM_001136020.3(ICA1):c.804+171T>C rs73674889 0.00006
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_001270974.2(HYDIN):c.12327T>C (p.Ile4109=) rs2502698 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_198321.4(GALNT10):c.263-138A>T rs59278572 0.00001
NC_000012.11:g.9713413A>G rs200950634
NC_000012.12:g.9542835G>T rs2536884
NC_000012.12:g.9542837A>G rs1360001942
NC_000012.12:g.9557442A>G rs79964986
NC_000020.11:g.30391112C>T rs4635596
NC_000020.11:g.30393423G>C rs73621498
NC_000020.11:g.30393452C>T rs73621500
NC_000020.11:g.30393488G>A rs62199575
NC_000020.11:g.30399118C>A rs10084493
NM_000260.4(MYO7A):c.3503+28G>T rs111906251
NM_000260.4(MYO7A):c.3503+32T>G rs12291062
NM_000344.4(SMN1):c.462A>G (p.Gln154=) rs4915
NM_001002029.4(C4B):c.4876+50C>T rs2854855
NM_001124759.5(FRG2C):c.179-112A>G rs12106841
NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg) rs74714110
NM_001124759.5(FRG2C):c.317T>G (p.Ile106Ser) rs73840323
NM_001124759.5(FRG2C):c.334+114A>G rs79449223
NM_001124759.5(FRG2C):c.334+93C>T rs75613762
NM_001124759.5(FRG2C):c.359A>G (p.Asn120Ser) rs62247157
NM_001124759.5(FRG2C):c.497A>G (p.Glu166Gly) rs77669108
NM_001242823.2(C4B_2):c.1040= (p.Tyr347=) rs392610
NM_001270974.2(HYDIN):c.12129+60G>A rs1798319
NM_001277062.2(MFF):c.-40-862_-40-861delinsTT rs386655869
NM_001289971.2(ZNF84):c.143-63A>T rs7314140
NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter) rs76555439
NM_001352000.1(LOC110384692):c.1040= (p.Tyr347=) rs139889867
NM_001384950.1(NLRC5):c.2718_2719delinsCG (p.Asn907Asp) rs386791098
NM_003194.5(TBP):c.216del (p.Gln72fs) rs2114994292
NM_005026.5(PIK3CD):c.-138+2682G>C rs201016347
NM_007293.3(C4A):c.1045+70G>A rs1554297651
NM_007293.3(C4A):c.1524+23C>A rs138900138
NM_007293.3(C4A):c.4876+50C>T rs149763320
NM_007293.3(C4A):c.5064G>A (p.Leu1688=) rs1554298645
NM_014334.4(FRRS1L):c.-3_-2delinsGC rs1554736515
NM_014694.4(ADAMTSL2):c.2592+67C>T rs2301607
NM_015307.2(ENTREP2):c.1124_1125delinsGC (p.His375Arg) rs34232112
NM_017411.4(SMN2):c.462A>G (p.Gln154=) rs1450194682
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
NM_019591.4(ZNF26):c.1515C>T (p.Thr505=) rs3825108
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) rs200219373
NM_153443.5(KIR3DL3):c.971T>C (p.Val324Ala) rs662386
NM_198321.4(GALNT10):c.263-139G>C rs57541779

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