ClinVar Miner

List of variants in gene MBD5 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(?_148157591)_(148226058_?)del
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509

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