ClinVar Miner

List of variants reported as likely pathogenic for Farber lipogranulomatosis by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.290T>G (p.Val97Gly) rs1588989964
NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg)
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_177924.5(ASAH1):c.786-1G>T

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