ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 2 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001291415.2(KDM6A):c.3910G>T (p.Ala1304Ser)
NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala) rs140562248
NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg) rs1602965199

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