ClinVar Miner

List of variants reported as uncertain significance for Farber lipogranulomatosis by Medical Affairs, Dicerna Pharmaceuticals

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?) rs1588971545
NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp) rs1588978567
NM_177924.5(ASAH1):c.66G>C (p.Gln22His) rs1589012017
NM_177924.5(ASAH1):c.67C>G (p.His23Asp) rs1359437059
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn) rs1354060089

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