ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP
NC_000008.11:g.18069805_18069807ACC[1] rs1588989947
NM_177924.4(ASAH1):c.126-3941_382+1358del
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
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.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.413A>T (p.Glu138Val) rs137853594
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.544C>G (p.Leu182Val) rs137853597
NM_177924.5(ASAH1):c.594_599dup (p.Lys200_Ala201insAsnPhe) rs1588978684
NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) rs137853593
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) rs1564537266
NM_177924.5(ASAH1):c.917+4A>G rs397509415
NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) rs137853596
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946

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