ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 40 by New York Genome Center

Included ClinVar conditions (1):

Intellectual disability, autosomal dominant 40

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032436.4(CHAMP1):c.1360G>A (p.Asp454Asn)	rs2087230003
NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe)	rs2139418657
NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser)	rs782278722

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