ClinVar Miner

List of variants studied for Kabuki syndrome 2 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.3164A>C (p.Gln1055Pro)
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg) rs2045472713
NM_001291415.2(KDM6A):c.3838G>C (p.Val1280Leu) rs1171103101

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