ClinVar Miner

List of variants reported as pathogenic for Majeed syndrome by Invitae

Included ClinVar conditions (1):

Majeed syndrome

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Total variants: 2

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HGVS	dbSNP
NC_000018.9:g.(?_2920271)_(2960858_?)del
NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter)	rs750126005

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