ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City and "likely benign" from any submitter

Minimum review status of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506

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