ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 85
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647

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