ClinVar Miner

List of variants in gene ASL reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
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.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.399G>A (p.Ser133=) rs141584041 0.00057
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.1143+13C>A rs202069416 0.00013
NM_000048.4(ASL):c.-31G>A rs766867890 0.00011
NM_000048.4(ASL):c.524+12G>T rs200700775 0.00009
NM_000048.4(ASL):c.656-14T>A rs756638742 0.00008
NM_000048.4(ASL):c.1293G>A (p.Gly431=) rs977248418 0.00006
NM_000048.4(ASL):c.159G>A (p.Gly53=) rs745883849 0.00004
NM_000048.4(ASL):c.718+3G>A rs368266194 0.00004
NM_000048.4(ASL):c.291+7C>G rs371162956 0.00003
NM_000048.4(ASL):c.833+4A>G rs375854730 0.00001
NM_000048.4(ASL):c.1194C>T (p.Ala398=) rs149370610
NM_000048.4(ASL):c.13-209del rs113517237
NM_000048.4(ASL):c.208-127C>T rs187671721
NM_000048.4(ASL):c.603-90GT[17] rs60055215
NM_000048.4(ASL):c.603-90GT[22] rs60055215
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.978+15_978+17delinsAA rs1064795459
NM_000048.4(ASL):c.978+15dup rs535066653

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