ClinVar Miner

List of variants reported as benign for Kabuki syndrome 2 by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.4161+14T>C	rs5952682	0.22765
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)	rs20539	0.16047
NM_001291415.2(KDM6A):c.2859-5del	rs10605935

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