ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 51 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):

Intellectual disability, autosomal dominant 51

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_017635.5(KMT5B):c.1690T>C (p.Tyr564His)	rs1238524382	0.00001
NM_017635.5(KMT5B):c.1298_1301del (p.Asn433fs)
NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
NM_017635.5(KMT5B):c.973G>T (p.Glu325Ter)

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