ClinVar Miner

List of variants in gene KDM6A reported as likely pathogenic for Kabuki syndrome 2

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.3366-1G>A rs1374292312 0.00001
NM_001291415.2(KDM6A):c.1581+1G>T rs1602799769
NM_001291415.2(KDM6A):c.1683+1G>T
NM_001291415.2(KDM6A):c.2067dup (p.Asn690Ter)
NM_001291415.2(KDM6A):c.2079+1G>A
NM_001291415.2(KDM6A):c.2367_2368del (p.Thr789_Pro790insTer)
NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter) rs2148047495
NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly) rs2044746153
NM_001291415.2(KDM6A):c.2988+2dup rs797045643
NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)
NM_001291415.2(KDM6A):c.3094+2T>C rs1569537333
NM_001291415.2(KDM6A):c.3095-1G>T rs2045273679
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly) rs2045279014
NM_001291415.2(KDM6A):c.3300+1G>A rs1602928572
NM_001291415.2(KDM6A):c.3301-2A>G rs1195711941
NM_001291415.2(KDM6A):c.334+1G>A
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg) rs2045472713
NM_001291415.2(KDM6A):c.3590-2A>G rs2045619034
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.2(KDM6A):c.3677G>A (p.Trp1226Ter) rs746435548
NM_001291415.2(KDM6A):c.3682G>A (p.Val1228Ile) rs2148169594
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu) rs1602985802
NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe) rs1060499665
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001291415.2(KDM6A):c.3892+2T>C rs793888510
NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter) rs1556357274
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.409G>T (p.Gly137Cys)
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter) rs1603068073
NM_001291415.2(KDM6A):c.565-401A>G
NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter) rs793888509
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp) rs2044199885

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