ClinVar Miner

List of variants studied for Kabuki syndrome 1 by MVZ Medizinische Genetik Mainz

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.1077_1108dup (p.Ser370fs) rs2498462643
NM_003482.4(KMT2D):c.14068G>T (p.Asp4690Tyr) rs2498339430
NM_003482.4(KMT2D):c.14719_14731del (p.Ser4907fs) rs2499039906
NM_003482.4(KMT2D):c.16306del (p.Ala5436fs) rs2499025686
NM_003482.4(KMT2D):c.6187A>G (p.Lys2063Glu) rs2498405177

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