List of variants in gene combination KDM6A, LOC130068183 reported as uncertain significance for Kabuki syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.152G>C (p.Gly51Ala)
NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val)
NM_001291415.2(KDM6A):c.163C>T (p.Arg55Cys)	rs1234030940
NM_001291415.2(KDM6A):c.177C>G (p.Phe59Leu)

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