ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from New York Genome Center and "benign" from any submitter

Minimum review status of the submission from New York Genome Center: Collection method of the submission from New York Genome Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 74
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val) rs147861291 0.00270
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_003244.4(TGIF1):c.16+1499T>C rs148390122 0.00215
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser) rs761479779 0.00013
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala) rs552806334 0.00011
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys) rs369421455 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp) rs1488845742 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly) rs750114221 0.00004
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_000381.4(MID1):c.1279G>A (p.Val427Ile) rs755985917 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_007118.4(TRIO):c.6725C>T (p.Thr2242Met) rs55916212 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
Single allele

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