ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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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.1164del (p.Ala389fs)
NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter) rs2147963446
NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter) rs2044215489
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly) rs2031089646
NM_001291415.2(KDM6A):c.1537C>T (p.Gln513Ter)
NM_001291415.2(KDM6A):c.1552_1555dup (p.Trp519fs) rs1556311265
NM_001291415.2(KDM6A):c.1577T>G (p.Leu526Ter)
NM_001291415.2(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.197del (p.Gly66fs)
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2002_2005del (p.Thr668fs) rs2044404250
NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter) rs2044726547
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.2379dup (p.Ala794fs)
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) rs886039398
NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs) rs2148050812
NM_001291415.2(KDM6A):c.2608del (p.Ser870fs) rs2044750709
NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs) rs1602868720
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.2988+1G>C rs1135401809
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs) rs1602928108
NM_001291415.2(KDM6A):c.3300+1del
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.3426_3429del (p.Ser1143fs) rs2045473471
NM_001291415.2(KDM6A):c.348C>A (p.Tyr116Ter) rs2147263638
NM_001291415.2(KDM6A):c.3494dup (p.Ser1166fs)
NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)
NM_001291415.2(KDM6A):c.3507TCT[1] (p.Leu1171del) rs398122829
NM_001291415.2(KDM6A):c.357C>G (p.Tyr119Ter)
NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001291415.2(KDM6A):c.3888dup (p.Thr1297fs)
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter) rs1556357314
NM_001291415.2(KDM6A):c.3954_3955dup (p.Ile1319fs)
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs) rs1064793351
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter) rs1318649487
NM_001291415.2(KDM6A):c.443+5G>C rs2041729565
NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter) rs189751539
NM_001291415.2(KDM6A):c.564+1G>T rs2042138847
NM_001291415.2(KDM6A):c.565-1G>A rs2147776373
NM_001291415.2(KDM6A):c.619+6T>C rs2042747021
NM_001291415.2(KDM6A):c.620-2A>G rs2042875800
NM_001291415.2(KDM6A):c.722_723dup (p.Lys242Ter)
NM_001291415.2(KDM6A):c.749-2A>G rs2043958892
NM_001291415.2(KDM6A):c.816T>G (p.Tyr272Ter)
NM_001291415.2(KDM6A):c.875+1G>A rs2043963299
nsv1067838

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