ClinVar Miner

List of variants reported as pathogenic for Hereditary factor XI deficiency disease by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000128.4(F11):c.943G>A (p.Glu315Lys)	rs281875257	0.00006
NM_000128.4(F11):c.841C>T (p.Gln281Ter)	rs770505620	0.00001
NM_000128.4(F11):c.214C>T (p.Arg72Ter)

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