ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Service de Génétique Moléculaire, Hôpital Robert Debré and "pathogenic" from any submitter

Minimum review status of the submission from Service de Génétique Moléculaire, Hôpital Robert Debré: Collection method of the submission from Service de Génétique Moléculaire, Hôpital Robert Debré:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs) rs1794569741
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054

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