ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_43515590)_(44970656_?)del
NC_000023.10:g.(?_44820509)_(44896954_?)del
NC_000023.10:g.(?_44894176)_(44896934_?)del
NC_000023.10:g.(?_44941801)_(44945244_?)del
NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter) rs2147963446
NM_001291415.2(KDM6A):c.1537C>T (p.Gln513Ter)
NM_001291415.2(KDM6A):c.1577T>G (p.Leu526Ter)
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001291415.2(KDM6A):c.225+1G>A rs2146448773
NM_001291415.2(KDM6A):c.2257_2260dup (p.His754fs) rs1556328781
NM_001291415.2(KDM6A):c.2284C>T (p.Gln762Ter) rs1358181248
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) rs886039398
NM_001291415.2(KDM6A):c.2608del (p.Ser870fs) rs2044750709
NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.2(KDM6A):c.2858+1G>A rs2148058653
NM_001291415.2(KDM6A):c.2858+2T>C rs2148058668
NM_001291415.2(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.2(KDM6A):c.3301-3T>G
NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs) rs1556346208
NM_001291415.2(KDM6A):c.3384del (p.Gly1129fs) rs2148143831
NM_001291415.2(KDM6A):c.348C>A (p.Tyr116Ter) rs2147263638
NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)
NM_001291415.2(KDM6A):c.3888dup (p.Thr1297fs)
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter) rs1318649487
NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001291415.2(KDM6A):c.565-1G>A rs2147776373

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