ClinVar Miner

List of variants reported as likely benign for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_004315.6(ASAH1):c.*244C>T rs405308
NM_004315.6(ASAH1):c.*334G>A rs115127411
NM_177924.4(ASAH1):c.-227T>G rs34466559
NM_177924.4(ASAH1):c.-238C>T rs35425490
NM_177924.5(ASAH1):c.*160T>C rs574774
NM_177924.5(ASAH1):c.*184T>A rs574114
NM_177924.5(ASAH1):c.*200C>T rs71526182
NM_177924.5(ASAH1):c.*695C>T rs403910
NM_177924.5(ASAH1):c.*932C>T rs7002731
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205
NM_177924.5(ASAH1):c.79-3C>T rs35513736

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