ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 1 by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) rs1227169455 0.00002
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) rs1592122640
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) rs1592106220
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) rs2120365558
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.176+1G>A rs1592162768
NM_003482.4(KMT2D):c.4237-2A>C rs797045001
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) rs1592136242
NM_003482.4(KMT2D):c.8230-1G>A rs1592132971

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