ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 40 by GenomeConnect - Brain Gene Registry

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.1192C>T (p.Arg398Ter)	rs797044962
NM_032436.4(CHAMP1):c.2094del (p.Ile698fs)
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)	rs863225077

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