ClinVar Miner

List of variants in gene combination KDM6A, LOC130068183 reported as benign 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)	rs1406131408	0.00003
NM_001291415.2(KDM6A):c.147C>T (p.Leu49=)	rs766103037	0.00001

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