ClinVar Miner

List of variants reported as pathogenic for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)	rs587777526
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)	rs1057518345

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