ClinVar Miner

List of variants in gene combination KDM6A, LOC130068184 reported as likely 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.225+14G>T	rs2031164445	0.00001
NM_001291415.2(KDM6A):c.225+19G>T	rs758432529

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