List of variants reported as pathogenic for Kabuki syndrome 1 by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs)	rs35493001
NM_003482.4(KMT2D):c.2091dup (p.Thr698fs)	rs1938028530
NM_003482.4(KMT2D):c.3292del (p.Met1098fs)	rs1592152233
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)	rs727503987
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)	rs886043414
NM_003482.4(KMT2D):c.510G>A (p.Gln170=)
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)	rs1555193738

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