List of variants studied for Farber lipogranulomatosis by OMIM

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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.125+211_383-1330del
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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