ClinVar Miner

List of variants reported as benign for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_004315.6(ASAH1):c.*708_*711del rs35838806
NM_004315.6(ASAH1):c.*926A>C rs3810
NM_177924.5(ASAH1):c.*1073C>T rs7508
NM_177924.5(ASAH1):c.*1103C>T rs28393365
NM_177924.5(ASAH1):c.*124T>A rs417661
NM_177924.5(ASAH1):c.*687C>G rs6771
NM_177924.5(ASAH1):c.*729T>C rs6770
NM_177924.5(ASAH1):c.*738C>G rs6769
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874
NM_177924.5(ASAH1):c.303+7G>A rs4921834
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355

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