ClinVar Miner

List of variants studied for dystonia 28, childhood-onset by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (2):

Dystonia 28, childhood-onset
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68

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_014727.3(KMT2B):c.4043A>G (p.Asn1348Ser)
NM_014727.3(KMT2B):c.5561C>T (p.Pro1854Leu)
NM_014727.3(KMT2B):c.6960-8C>T
NM_014727.3(KMT2B):c.7225C>T (p.Arg2409Trp)

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