ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from GeneID Lab - Advanced Molecular Diagnostics and "pathogenic" from any submitter

Minimum review status of the submission from GeneID Lab - Advanced Molecular Diagnostics: Collection method of the submission from GeneID Lab - Advanced Molecular Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425

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