ClinVar Miner

List of variants in gene ASAH1 reported as pathogenic for Farber lipogranulomatosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_004315.5(ASAH1):c.1006A>G (p.Asn336Asp) rs137853596
NM_004315.5(ASAH1):c.155A>G (p.Tyr52Cys) rs137853595
NM_004315.5(ASAH1):c.461A>T (p.Glu154Val) rs137853594
NM_004315.5(ASAH1):c.592C>G (p.Leu198Val) rs137853597
NM_004315.5(ASAH1):c.713C>A (p.Thr238Lys) rs137853593
NM_177924.4(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.4(ASAH1):c.917+4A>G rs397509415

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