ClinVar Miner

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

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: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) rs750451843 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu) rs539161490
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.