ClinVar Miner

List of variants reported as uncertain significance by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

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ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_000264.5(PTCH1):c.68C>T (p.Ala23Val) rs761204245 0.00002
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys) rs1443234544 0.00001
NM_002485.5(NBN):c.445C>T (p.His149Tyr) rs1161054161 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_000038.6(APC):c.1015A>T (p.Ser339Cys)
NM_000038.6(APC):c.1743+254T>C
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His) rs2086422796
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly) rs1555281950
NM_000059.4(BRCA2):c.526A>T (p.Thr176Ser) rs1214427273
NM_000179.3(MSH6):c.3974A>C (p.Lys1325Thr) rs876658189
NM_000249.4(MLH1):c.116+1017T>A
NM_000249.4(MLH1):c.1896+179G>C
NM_000249.4(MLH1):c.207+346G>C
NM_000249.4(MLH1):c.678-234_678-233insAGTG
NM_000249.4(MLH1):c.896G>A (p.Ser299Asn) rs1553647926
NM_000264.5(PTCH1):c.3168+139G>C
NM_000264.5(PTCH1):c.3449+255G>T
NM_000295.5(SERPINA1):c.844G>A (p.Gly282Arg)
NM_000314.8(PTEN):c.*667A>T rs886047409
NM_000321.3(RB1):c.1696-7964C>T
NM_000325.6(PITX2):c.412-283C>A
NM_000455.5(STK11):c.464+140dup
NM_000455.5(STK11):c.464+322C>T
NM_000546.6(TP53):c.1101-313G>A
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.673-110G>A
NM_000546.6(TP53):c.7G>C (p.Glu3Gln) rs2073524362
NM_000743.5(CHRNA3):c.267+14C>T
NM_000743.5(CHRNA3):c.378-230_378-229inv
NM_000745.4(CHRNA5):c.*747T>C
NM_000745.4(CHRNA5):c.304-96C>A
NM_000750.5(CHRNB4):c.*319_*320delinsAT
NM_000870.7(HTR4):c.1076+211C>A
NM_001005738.2(FPR2):c.-15+1402C>T
NM_001012426.2(FOXP4):c.-16-161C>A
NM_001012426.2(FOXP4):c.-17+129G>C
NM_001012426.2(FOXP4):c.-17+229T>C
NM_001012426.2(FOXP4):c.511-141G>T
NM_001012426.2(FOXP4):c.511-214T>C
NM_001079668.3(NKX2-1):c.*726G>C
NM_001127208.3(TET2):c.2446A>G (p.Asn816Asp)
NM_001166694.2(CHRNA3):c.1390-614A>G
NM_001243133.2(NLRP3):c.-121T>C
NM_001243133.2(NLRP3):c.-146T>C
NM_001243133.2(NLRP3):c.-748-307A>G
NM_001243133.2(NLRP3):c.1486G>A (p.Asp496Asn)
NM_001243133.2(NLRP3):c.2151-225C>A
NM_001243133.2(NLRP3):c.2338C>A (p.Leu780Ile)
NM_001243133.2(NLRP3):c.2353T>C (p.Cys785Arg)
NM_001243133.2(NLRP3):c.2835-14C>A
NM_001243133.2(NLRP3):c.398-24C>G
NM_001304359.2(MUC5AC):c.10898C>T (p.Ala3633Val)
NM_001304359.2(MUC5AC):c.1386+63G>T
NM_001304359.2(MUC5AC):c.14528C>A (p.Thr4843Asn)
NM_001304359.2(MUC5AC):c.14615A>G (p.Glu4872Gly)
NM_001304359.2(MUC5AC):c.15862-71G>T
NM_001304359.2(MUC5AC):c.2093-112C>T
NM_001304359.2(MUC5AC):c.211+43T>C
NM_001304359.2(MUC5AC):c.3777-148T>A
NM_001304359.2(MUC5AC):c.6811G>T (p.Ala2271Ser)
NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)
NM_001304359.2(MUC5AC):c.9463A>T (p.Thr3155Ser)
NM_001378902.1(ROS1):c.3167A>G (p.Asn1056Ser)
NM_001378902.1(ROS1):c.3366+23T>C
NM_001378902.1(ROS1):c.5062-46A>C
NM_001378902.1(ROS1):c.682C>G (p.Gln228Glu)
NM_001382430.1(AKT1):c.287+402_287+403delinsGG
NM_001382430.1(AKT1):c.633+300T>C
NM_001964.3(EGR1):c.-205G>A
NM_002019.4(FLT1):c.1106+219G>T
NM_002019.4(FLT1):c.2594-52G>A
NM_002019.4(FLT1):c.2708-190C>T
NM_002019.4(FLT1):c.2708-195G>T
NM_002019.4(FLT1):c.3174+225T>G
NM_002019.4(FLT1):c.3721-78C>A
NM_002019.4(FLT1):c.513+216C>T
NM_002019.4(FLT1):c.64+22G>T
NM_002555.6(SLC22A18):c.865-1046C>T
NM_003238.6(TGFB2):c.510+148T>G
NM_004136.4(IREB2):c.1023+1037G>A
NM_004136.4(IREB2):c.1024-1244T>A
NM_004304.5(ALK):c.2205-116G>A
NM_004465.2(FGF10):c.*723C>A
NM_005228.5(EGFR):c.*2368G>T
NM_005228.5(EGFR):c.1661A>G (p.Glu554Gly) rs779741928
NM_005228.5(EGFR):c.2701+77T>G
NM_005228.5(EGFR):c.3114+101A>G
NM_005228.5(EGFR):c.88+24313G>C
NM_005732.4(RAD50):c.1090A>G (p.Ile364Val) rs1750641668
NM_005732.4(RAD50):c.1928A>T (p.Asp643Val) rs1750764737
NM_006182.4(DDR2):c.1294-109C>T
NM_006182.4(DDR2):c.1728+293A>G
NM_006982.3(ALX1):c.791G>T (p.Gly264Val)
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val) rs2053336861
NM_007294.4(BRCA1):c.3027A>C (p.Ser1009=) rs1555588512
NM_007294.4(BRCA1):c.4405C>A (p.Pro1469Thr) rs80356960
NM_014491.4(FOXP2):c.1164G>T (p.Val388=)
NM_014491.4(FOXP2):c.2003+1336G>C
NM_014491.4(FOXP2):c.2003+2748G>A
NM_014491.4(FOXP2):c.2003+4074C>A
NM_014883.4(FAM13A):c.1459-515_1459-514inv
NM_024832.5(RIN3):c.-7C>A
NM_024832.5(RIN3):c.367+51A>T
NM_024832.5(RIN3):c.44+240_44+241inv
NM_024832.5(RIN3):c.532+232A>C
NM_024832.5(RIN3):c.532+23G>T
NM_033274.5(ADAM19):c.1130+67G>T
NM_033274.5(ADAM19):c.180+659A>C
NM_033274.5(ADAM19):c.251+324T>G
NM_033274.5(ADAM19):c.252-190C>A
NM_033274.5(ADAM19):c.252-193T>G
NM_138554.5(TLR4):c.*4092C>T
NM_138554.5(TLR4):c.1431A>T (p.Lys477Asn)
NM_138554.5(TLR4):c.6G>T (p.Met2Ile)
NM_198569.3(ADGRG6):c.2127+438T>C
NM_198569.3(ADGRG6):c.2541+173_2541+175inv
NM_198569.3(ADGRG6):c.2541+185_2541+187delinsTCT
NM_203416.4(CD163):c.1100-317C>A
NM_203416.4(CD163):c.3344-144C>G
NM_203416.4(CD163):c.45T>A (p.Ala15=)
NM_207517.3(ADAMTSL3):c.1700+350A>T
NM_207517.3(ADAMTSL3):c.2490+207A>C
NM_207517.3(ADAMTSL3):c.2490+210C>G
NM_207517.3(ADAMTSL3):c.318-243T>C
NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)

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