ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 1 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)	rs542331667	0.00007
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)	rs752477959	0.00006
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)

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