ClinVar Miner

List of variants reported as likely benign for Farber lipogranulomatosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_177924.4(ASAH1):c.-227T>G rs34466559 0.08846
NM_177924.4(ASAH1):c.-238C>T rs35425490 0.06313
NM_177924.5(ASAH1):c.*368C>T rs17126181 0.00464
NM_177924.5(ASAH1):c.-40C>T rs200994787 0.00199
NM_177924.5(ASAH1):c.*356C>G rs141443856 0.00034
NM_177924.5(ASAH1):c.-38C>T rs201935182 0.00032
NM_177924.5(ASAH1):c.910G>C (p.Val304Leu) rs78267388 0.00016

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