ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Institute of Human Genetics,Klinikum rechts der Isar

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_003482.3(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.3292del (p.Met1098fs) rs1592152233

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