ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "likely benign" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 80
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_198578.4(LRRK2):c.3777+7C>T rs41286480 0.00097
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_198578.4(LRRK2):c.4536+3A>G rs41286476 0.00027
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301 0.00008
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met) rs200881888 0.00004
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_004484.4(GPC3):c.733C>A (p.His245Asn) rs199778216 0.00002
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000091.5(COL4A3):c.2746+17C>T rs765408537 0.00001
NM_000628.5(IL10RB):c.647-14A>C rs45526732 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) rs959605686 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003072.5(SMARCA4):c.2439-12T>G rs1462368992 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp) rs1211983012 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_000053.4(ATP7B):c.2356-16del rs1257703465
NM_000081.4(LYST):c.11038+11T>C
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) rs779739159
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly) rs2048546542
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_003072.5(SMARCA4):c.1944-12C>A rs149763341
NM_003072.5(SMARCA4):c.4171-1861A>G rs771462690
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_025137.4(SPG11):c.7152-6A>G rs2082233766

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