ClinVar Miner

List of variants reported as pathogenic for Hereditary factor XI deficiency disease by Reproductive Health Research and Development, BGI Genomics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00065

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