ClinVar Miner

List of variants in gene ASAH1 reported as pathogenic for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_177924.5(ASAH1):c.64C>T (p.Gln22Ter) rs756041561 0.00004
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) rs369707059 0.00003
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) rs1564537266 0.00003
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) rs543697946 0.00003
NM_177924.5(ASAH1):c.1098+1G>T rs763842677 0.00001
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.283C>T (p.Gln95Ter) rs759037498 0.00001
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter) rs771847002 0.00001
NM_177924.5(ASAH1):c.918-2A>G rs747457090 0.00001
NC_000008.10:g.(?_17915043)_(17924827_?)del
NC_000008.10:g.(?_17915043)_(17941567_?)del
NC_000008.10:g.(?_17924709)_(17924827_?)del
NC_000008.10:g.(?_17927301)_(17930785_?)del
NC_000008.10:g.(?_17941470)_(17941567_?)del
NC_000008.11:g.18061741del rs1369327940
NM_177924.5(ASAH1):c.1042_1045del (p.Asn348fs)
NM_177924.5(ASAH1):c.1048_1049del (p.Ser350fs) rs2117015674
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_177924.5(ASAH1):c.125+1G>A rs1588999312
NM_177924.5(ASAH1):c.125+1G>T
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) rs771718522
NM_177924.5(ASAH1):c.177C>A (p.Tyr59Ter)
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter) rs766395283
NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter)
NM_177924.5(ASAH1):c.208del (p.Ala70fs)
NM_177924.5(ASAH1):c.340G>T (p.Glu114Ter)
NM_177924.5(ASAH1):c.387_388del (p.Glu129fs) rs2117037641
NM_177924.5(ASAH1):c.409_410insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGTACTCGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATTCAATATTTTTT (p.Tyr137fs)
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) rs1281024431
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) rs1588982399
NM_177924.5(ASAH1):c.455_456del (p.Lys152fs)
NM_177924.5(ASAH1):c.456dup (p.Gly153fs) rs768342020
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.484del (p.Asp162fs)
NM_177924.5(ASAH1):c.528G>A (p.Trp176Ter)
NM_177924.5(ASAH1):c.53dup (p.Cys18fs)
NM_177924.5(ASAH1):c.605C>G (p.Ser202Ter)
NM_177924.5(ASAH1):c.61_76del (p.Ala21fs) rs2117107396
NM_177924.5(ASAH1):c.621T>A (p.Tyr207Ter)
NM_177924.5(ASAH1):c.663_666del (p.Leu221_Thr222insTer)
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.5(ASAH1):c.744G>A (p.Trp248Ter)
NM_177924.5(ASAH1):c.885_886del (p.Asp297fs) rs2117018589
NM_177924.5(ASAH1):c.931C>T (p.Gln311Ter)
NM_177924.5(ASAH1):c.952C>T (p.Gln318Ter)
NM_177924.5(ASAH1):c.965dup (p.Asp322fs)

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