ClinVar Miner

List of variants reported as benign for congenital limb malformation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=) rs6524946 0.08938
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
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_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 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_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
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_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr) rs34398255
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_153717.3(EVC):c.802-12_802-11del rs372546602

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