ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)	rs2120437987
NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)	rs2498349642
NM_020738.4(KIDINS220):c.4269del (p.Gly1425fs)	rs2527406250

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