ClinVar Miner

List of variants reported as pathogenic 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: 12
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) rs1564537266 0.00003
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) rs1588973237
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) rs771718522
NM_177924.5(ASAH1):c.256dup (p.Thr86fs) rs1336696568
NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del) rs1588989947
NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) rs1588989964
NM_177924.5(ASAH1):c.383-10_383-6del rs761372687
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) rs1281024431
NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) rs1421841663
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) rs1588978873
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe) rs1588978684

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