ClinVar Miner

List of variants in gene ASL reported as uncertain significance for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) rs769017508 0.00001
NM_000048.4(ASL):c.525-26A>C rs1029804533 0.00001
NM_000048.4(ASL):c.640G>C (p.Glu214Gln) rs765009028 0.00001
NM_000048.4(ASL):c.646C>T (p.Leu216Phe) rs1786698960 0.00001
NM_000048.4(ASL):c.740C>T (p.Ser247Leu) rs1405344068 0.00001
NM_000048.4(ASL):c.846C>G (p.Ser282Arg) rs398123128 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NM_000048.4(ASL):c.1175G>A (p.Gly392Glu)
NM_000048.4(ASL):c.207G>A (p.Lys69=) rs886043007
NM_000048.4(ASL):c.208-6C>G
NM_000048.4(ASL):c.496C>T (p.Pro166Ser) rs1246351622
NM_000048.4(ASL):c.502C>T (p.Arg168Cys) rs766832061
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.758T>C (p.Leu253Pro) rs183018428
NM_000048.4(ASL):c.837G>C (p.Thr279=) rs543255240
NM_000048.4(ASL):c.893G>T (p.Ser298Ile) rs1786763426
NM_000048.4(ASL):c.998T>C (p.Phe333Ser) rs2115746685

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