ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 1 by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	rs1565756106
NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala)	rs1937821838
NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val)	rs1943527215

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