ClinVar Miner

List of variants in gene KDM6A studied for Kabuki syndrome 2

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Total variants: 36
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HGVS dbSNP
NM_001291415.1(KDM6A):c.1548_1551TCAT[3] (p.Trp519fs) rs1556311265
NM_001291415.1(KDM6A):c.1581+1G>T
NM_001291415.1(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.1(KDM6A):c.1907C>T (p.Thr636Met) rs141353229
NM_001291415.1(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.1(KDM6A):c.2257_2258TC[4] (p.His754fs) rs1556328781
NM_001291415.1(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001291415.1(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.1(KDM6A):c.2629A>G (p.Thr877Ala)
NM_001291415.1(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.1(KDM6A):c.2802_2803dup (p.Pro935fs)
NM_001291415.1(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.1(KDM6A):c.2988+1G>C rs1135401809
NM_001291415.1(KDM6A):c.2988+2dup rs797045643
NM_001291415.1(KDM6A):c.3094+2T>C rs1569537333
NM_001291415.1(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.1(KDM6A):c.3300+1G>A
NM_001291415.1(KDM6A):c.3507_3509TCT[1] (p.Leu1171del) rs398122829
NM_001291415.1(KDM6A):c.3613T>C (p.Cys1205Arg)
NM_001291415.1(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.1(KDM6A):c.3740C>T (p.Pro1247Leu)
NM_001291415.1(KDM6A):c.3754C>T (p.Leu1252Phe) rs1060499665
NM_001291415.1(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001291415.1(KDM6A):c.3870T>C (p.Ala1290=) rs142238688
NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001291415.1(KDM6A):c.3892+2T>C rs793888510
NM_001291415.1(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001291415.1(KDM6A):c.3925G>T (p.Glu1309Ter) rs1556357274
NM_001291415.1(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.1(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_001291415.1(KDM6A):c.4207C>T (p.Arg1403Ter)
NM_001291415.1(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411
NM_001291415.1(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751
NM_001291415.1(KDM6A):c.752G>A (p.Trp251Ter) rs793888509
nsv1067838

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