ClinVar Miner

List of variants reported as pathogenic for Neutropenia; Premature ovarian insufficiency by Reproductive Development, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	rs200203460	0.00003
NM_001258392.3(CLPB):c.1167+5G>A

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