ClinVar Miner

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

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Total variants: 36
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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.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) rs369707059 0.00003
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) rs543697946 0.00003
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala) rs779888892 0.00002
NM_177924.5(ASAH1):c.785+2T>C rs754659903 0.00002
NM_177924.5(ASAH1):c.217-2A>G rs771628836 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.458-2A>C rs994417916 0.00001
NM_177924.5(ASAH1):c.1041+1G>T
NM_177924.5(ASAH1):c.1042-2A>C
NM_177924.5(ASAH1):c.1060_1064del (p.Thr353_Met354insTer)
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) rs1588973237
NM_177924.5(ASAH1):c.216+1G>A
NM_177924.5(ASAH1):c.216+2T>C rs2117062166
NM_177924.5(ASAH1):c.304-1G>A
NM_177924.5(ASAH1):c.383-1G>C
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) rs137853594
NM_177924.5(ASAH1):c.457+1G>A
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.458-1G>A
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_177924.5(ASAH1):c.648+1G>A rs1411267767
NM_177924.5(ASAH1):c.648+1G>C rs1411267767
NM_177924.5(ASAH1):c.649-2A>T
NM_177924.5(ASAH1):c.649-2_649-1del
NM_177924.5(ASAH1):c.703+1G>A
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) rs886062781
NM_177924.5(ASAH1):c.785+1G>A rs1019450405
NM_177924.5(ASAH1):c.786-1G>C
NM_177924.5(ASAH1):c.786-2A>G rs2117019094
NM_177924.5(ASAH1):c.917+2T>G
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) rs1588974267
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn) rs1354060089
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098

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