ClinVar Miner

Variants with conflicting interpretations "pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "likely pathogenic" from any submitter

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 103
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NC_012920.1:m.3243A>G rs199474657
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs) rs878853167
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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