ClinVar Miner

List of variants reported as likely pathogenic for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_004315.6(ASAH1):c.155A>G (p.Tyr52Cys) rs137853595
NM_177924.5(ASAH1):c.648+1G>C rs1411267767

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