ClinVar Miner

Variants with conflicting interpretations "likely benign" from Invitae and "pathogenic" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 118
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352 0.00061
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) rs139382018 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00027
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) rs368420430 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser) rs775407864 0.00008
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 0.00008
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506

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