ClinVar Miner

List of variants in gene ASL reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.602+123T>C rs313830 0.77234
NM_000048.4(ASL):c.656-102T>C rs313828 0.76440
NM_000048.4(ASL):c.655+124A>G rs313829 0.71689
NM_000048.4(ASL):c.978+63C>T rs2460432 0.65407
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_000048.4(ASL):c.719-272A>G rs28447397 0.04249
NM_000048.4(ASL):c.1063-21C>T rs28566023 0.04208
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_000048.4(ASL):c.718+303G>A rs143753787 0.01385
NM_000048.4(ASL):c.603-244G>A rs79751392 0.01384
NM_000048.4(ASL):c.978+46G>T rs117651205 0.01383
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878 0.00717
NM_000048.4(ASL):c.1062+16C>G rs192554187 0.00714
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.1251-47G>A rs2292938 0.00164
NM_000048.4(ASL):c.1063-57G>C rs1167406
NM_000048.4(ASL):c.1144-80del rs67457607
NM_000048.4(ASL):c.447-188G>A rs12530898
NM_000048.4(ASL):c.603-90GT[16] rs60055215
NM_000048.4(ASL):c.603-90GT[18] rs60055215
NM_000048.4(ASL):c.603-90GT[19] rs60055215
NM_000048.4(ASL):c.603-90GT[21] rs60055215
NM_000048.4(ASL):c.978+30C>T rs160647

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