ClinVar Miner

List of variants in gene KDM6A, LOC130068184 studied for Kabuki syndrome 2

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.225+14G>T
NM_001291415.2(KDM6A):c.225+16G>C
NM_001291415.2(KDM6A):c.225+19G>T rs758432529

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