ClinVar Miner

List of variants in gene combination ASAH1, LOC129999940 reported as uncertain significance for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_177924.4(ASAH1):c.-101G>A rs139001299 0.02366
NM_177924.4(ASAH1):c.-104C>G rs546277660 0.00101
NM_177924.5(ASAH1):c.-27C>T rs371756048 0.00062
NM_177924.5(ASAH1):c.-6A>G rs200503438 0.00014
NM_177924.5(ASAH1):c.-23G>C rs750505676 0.00001
NM_177924.5(ASAH1):c.-2C>G rs371791165

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