ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely pathogenic" from any submitter

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 81
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NC_012920.1:m.11778G>A rs199476112
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001655.5(ARCN1):c.654-15A>G rs1591385240
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter) rs2141167019
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) rs1797574932
Single allele

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