ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from OMIM and "benign" from any submitter

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ClinVar version:
Total variants with conflicting interpretations: 72
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
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_016816.4(OAS1):c.484G>A (p.Gly162Ser) rs1131454 0.47874
NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val) rs203462 0.43766
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) rs2286963 0.27207
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_006433.5(GNLY):c.11G>A (p.Trp4Ter) rs10181739 0.02612
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_017841.4(SDHAF2):c.*12C>T rs113652589 0.00617
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly) rs34595252 0.00461
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 0.00170
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu) rs72554071 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile) rs149614835 0.00118
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) rs140506267 0.00108
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918 0.00004
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
Multiple alleles
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_001437.3(ESR2):c.541_543del (p.Asn181del) rs750091675
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085

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