ClinVar Miner

List of variants studied for Farber lipogranulomatosis by GeneReviews

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.125+211_383-1330del
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.5(ASAH1):c.917+4A>G rs397509415

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