List of variants in gene ASL reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 94

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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.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.576G>A (p.Lys192=)	rs115468878	0.00717
NM_000048.4(ASL):c.1062+16C>G	rs192554187	0.00714
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.1251-47G>A	rs2292938	0.00164
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.35G>A (p.Arg12Gln)	rs145138923	0.00120
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.532G>A (p.Val178Met)	rs28941473	0.00034
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00015
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.446+1G>A	rs142637046	0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	rs143508372	0.00008
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.544C>T (p.Arg182Ter)	rs398123126	0.00005
NM_000048.4(ASL):c.159G>A (p.Gly53=)	rs745883849	0.00004
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)	rs369879957	0.00004
NM_000048.4(ASL):c.718+3G>A	rs368266194	0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.291+7C>G	rs371162956	0.00003
NM_000048.4(ASL):c.447-1G>A	rs778254333	0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	rs761651320	0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)	rs1301059768	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	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.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)	rs1405344068	0.00001
NM_000048.4(ASL):c.833+4A>G	rs375854730	0.00001
NM_000048.4(ASL):c.839G>A (p.Gly280Glu)	rs1085307952	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)	rs796051933
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)	rs367543005
NM_000048.4(ASL):c.1063-57G>C	rs1167406
NM_000048.4(ASL):c.1144-80del	rs67457607
NM_000048.4(ASL):c.1175G>A (p.Gly392Glu)
NM_000048.4(ASL):c.1194C>T (p.Ala398=)	rs149370610
NM_000048.4(ASL):c.13-209del	rs113517237
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.208-127C>T	rs187671721
NM_000048.4(ASL):c.447-188G>A	rs12530898
NM_000048.4(ASL):c.496C>T (p.Pro166Ser)	rs1246351622
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer)	rs796051932
NM_000048.4(ASL):c.539T>G (p.Leu180Arg)	rs1057141162
NM_000048.4(ASL):c.603-90GT[16]	rs60055215
NM_000048.4(ASL):c.603-90GT[17]	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.603-90GT[22]	rs60055215
NM_000048.4(ASL):c.656-5C>A	rs201814807
NM_000048.4(ASL):c.758T>C (p.Leu253Pro)	rs183018428
NM_000048.4(ASL):c.978+15_978+17delinsAA	rs1064795459
NM_000048.4(ASL):c.978+15dup	rs535066653
NM_000048.4(ASL):c.978+30C>T	rs160647
NM_000048.4(ASL):c.998T>C (p.Phe333Ser)	rs2115746685

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