ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli and "likely pathogenic" from any submitter

Minimum review status of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli: Collection method of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768

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