ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):

Intellectual disability, autosomal dominant 1

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu)	rs1680672960	0.00001
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys)	rs796052709
NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)

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