ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs)	rs1942891632
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)	rs1452715535

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