ClinVar Miner

List of variants studied for Complement component 7 deficiency by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000587.4(C7):c.2350+2T>C	rs201240159	0.00031
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)	rs121964921	0.00006
NM_000587.4(C7):c.281-1G>T	rs531103546	0.00001
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920

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