ClinVar Miner

List of variants reported as pathogenic for Farber lipogranulomatosis by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) rs2117047219
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) rs137853594
NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly) rs2117037405
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) rs137853597
NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) rs137853593
NM_177924.5(ASAH1):c.917+4A>G rs397509415
NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) rs137853596

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