ClinVar Miner

Variants with conflicting interpretations "benign" from Fulgent Genetics, Fulgent Genetics and "likely benign" from any submitter

Minimum review status of the submission from Fulgent Genetics, Fulgent Genetics: Collection method of the submission from Fulgent Genetics, Fulgent Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 175
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_006580.4(CLDN16):c.-45del rs368234054
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_198578.4(LRRK2):c.3497-8del rs201739149

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