ClinVar Miner

List of variants reported as not provided for Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections by GenomeConnect - Invitae Patient Insights Network

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser)	rs774297463
NM_032638.5(GATA2):c.25C>T (p.Arg9Cys)	rs1436974541
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val)	rs1060500084

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