ClinVar Miner

List of variants studied for Kabuki syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) rs1592110663
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys) rs2499035633
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) rs1942485576
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740

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