ClinVar Miner

List of variants in gene ASL reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
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.718+14A>T rs117035302 0.01554
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.*218C>T rs115226772 0.00375
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000048.4(ASL):c.*395C>T rs140184651 0.00090
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000048.4(ASL):c.*286T>A rs555884175 0.00011
NM_000048.4(ASL):c.-31G>A rs766867890 0.00011
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000048.4(ASL):c.-16C>T rs372229504 0.00005
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000048.4(ASL):c.*11A>G rs199571661 0.00004
NM_000048.4(ASL):c.-34A>G rs913916151 0.00004
NM_000048.4(ASL):c.656-6C>G rs374259737 0.00004
NM_000048.4(ASL):c.155C>T (p.Ala52Val) rs886062405 0.00003
NM_000048.4(ASL):c.748A>G (p.Met250Val) rs374908945 0.00003
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000048.4(ASL):c.*93C>T rs1362861443 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000048.4(ASL):c.1143+2T>G rs2115760718
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.29G>A (p.Gly10Asp) rs1786510603
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.531C>A (p.Ala177=) rs201974677
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.917G>C (p.Arg306Pro) rs755245694

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