ClinVar Miner

List of variants in gene MBD5 reported as pathogenic for Autism spectrum disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)	rs2105571544
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	rs1553518509

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