ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from RettBASE and "pathogenic" from any submitter

Minimum review status of the submission from RettBASE: Collection method of the submission from RettBASE:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418

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