ClinVar Miner

List of variants studied for Farber lipogranulomatosis by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)	rs543697946	0.00006
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)	rs756455049
NM_177924.5(ASAH1):c.77C>T (p.Pro26Leu)

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