ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 2

Included ClinVar conditions (1):
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Total variants: 7
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NM_001291415.1(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001291415.1(KDM6A):c.2629A>G (p.Thr877Ala)
NM_001291415.1(KDM6A):c.3613T>C (p.Cys1205Arg)
NM_001291415.1(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.1(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001291415.1(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411
NM_001291415.1(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751

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