ClinVar Miner

List of variants studied for Kabuki syndrome 2 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.1(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.1(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.1(KDM6A):c.3507_3509TCT[1] (p.Leu1171del) rs398122829
NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929

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