ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser) rs1016586399 0.00003
NM_001291415.2(KDM6A):c.3589+5T>C rs972968488 0.00002
NM_001291415.2(KDM6A):c.1474A>T (p.Ser492Cys) rs1438320100
NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val)
NM_001291415.2(KDM6A):c.3101G>C (p.Gly1034Ala)
NM_001291415.2(KDM6A):c.4100A>G (p.Lys1367Arg) rs2046573753
NM_001291415.2(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751

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