ClinVar Miner

List of variants in gene ASL reported as likely benign for not provided

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.603-22C>T rs115232785 0.01321
NM_000048.4(ASL):c.718+101G>A rs149410743 0.01010
NM_000048.4(ASL):c.1144-35C>A rs78591808 0.00812
NM_000048.4(ASL):c.978+47C>T rs188109158 0.00811
NM_000048.4(ASL):c.1144-96G>A rs77144805 0.00778
NM_000048.4(ASL):c.208-72G>T rs114331121 0.00727
NM_000048.4(ASL):c.603-39G>T rs117864317 0.00351
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.183C>T (p.Asp61=) rs73374672 0.00282
NM_000048.4(ASL):c.979-34G>A rs192494428 0.00246
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.*36G>A rs191626907 0.00235
NM_000048.4(ASL):c.927G>T (p.Gly309=) rs151294789 0.00185
NM_000048.4(ASL):c.602+41G>C rs373263353 0.00146
NM_000048.4(ASL):c.602+42C>A rs570144023 0.00146
NM_000048.4(ASL):c.309G>A (p.Thr103=) rs142448820 0.00129
NM_000048.4(ASL):c.1029C>T (p.Leu343=) rs140532520 0.00083
NM_000048.4(ASL):c.330A>G (p.Gly110=) rs147464765 0.00007
NM_000048.4(ASL):c.90C>T (p.Tyr30=) rs751062108 0.00005
NM_000048.4(ASL):c.718+3G>A rs368266194 0.00004
NM_000048.4(ASL):c.13-209del rs113517237
NM_000048.4(ASL):c.208-127C>T rs187671721
NM_000048.4(ASL):c.258G>A (p.Glu86=) rs1584022010
NM_000048.4(ASL):c.603-90GT[17] rs60055215
NM_000048.4(ASL):c.603-90GT[22] rs60055215

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