ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center and "benign" from any submitter

Minimum review status of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center: Collection method of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 129
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs) rs749052307 0.00173
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) rs115209326 0.00131
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) rs144768563 0.00113
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) rs145583732 0.00091
NM_001177701.3(IFT27):c.115-5G>A rs190494362 0.00087
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys) rs113329438 0.00083
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp) rs148703569 0.00080
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr) rs142872070 0.00073
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser) rs117077093 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623 0.00055
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys) rs749409983 0.00050
NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr) rs191392262 0.00050
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val) rs191098985 0.00032
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys) rs148146011 0.00026
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_194277.3(FRMD7):c.1531A>G (p.Ile511Val) rs199717232 0.00014
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 0.00012
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp) rs775759727 0.00011
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr) rs374376006 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val) rs549705696 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr) rs752659701 0.00002
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs) rs762667965
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser) rs34001856
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_014208.3(DSPP):c.3024CAGCAGTGA[1] (p.1005DSS[3]) rs762157486
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689

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