ClinVar Miner

List of variants in gene combination ASAH1, LOC129999940 reported as likely benign for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.-40C>T rs200994787 0.00199
NM_177924.5(ASAH1):c.-38C>T rs201935182 0.00032

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