ClinVar Miner

List of variants in gene ARSB reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
NM_000046.3(ARSB):c.*3195A>G rs16875887
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-1058A>G rs886060802
NM_000046.3(ARSB):c.-1178A>G rs163126
NM_000046.3(ARSB):c.-726C>T rs116419942
NM_000046.3(ARSB):c.-840_-839dupCA rs1255033691
NM_000046.3(ARSB):c.-848C>T rs571164401
NM_000046.3(ARSB):c.-850dupT rs574333268
NM_000046.3(ARSB):c.-906C>G rs62377914
NM_000046.3(ARSB):c.-958A>G rs57586329
NM_000046.5(ARSB):c.*1146G>A
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1153C>A
NM_000046.5(ARSB):c.*1169T>C rs886060791
NM_000046.5(ARSB):c.*1257A>C rs754567
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1302G>T rs754566
NM_000046.5(ARSB):c.*1326G>T
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1373A>G
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1420G>A
NM_000046.5(ARSB):c.*1469C>T rs55710452
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1513C>T rs886060786
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1594C>A
NM_000046.5(ARSB):c.*1610G>A rs867100156
NM_000046.5(ARSB):c.*1635G>A
NM_000046.5(ARSB):c.*166G>A
NM_000046.5(ARSB):c.*1729del rs369595123
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1951A>G
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2013G>A rs113059935
NM_000046.5(ARSB):c.*2022T>G rs7704939
NM_000046.5(ARSB):c.*202A>G rs73770019
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T
NM_000046.5(ARSB):c.*212A>G rs561718720
NM_000046.5(ARSB):c.*2155C>T
NM_000046.5(ARSB):c.*2158C>T
NM_000046.5(ARSB):c.*2164T>A
NM_000046.5(ARSB):c.*2243A>G rs145585943
NM_000046.5(ARSB):c.*2251G>A
NM_000046.5(ARSB):c.*2287C>T rs886060782
NM_000046.5(ARSB):c.*2408A>G
NM_000046.5(ARSB):c.*2524A>T
NM_000046.5(ARSB):c.*2525A>T
NM_000046.5(ARSB):c.*2526T>A
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2559G>A
NM_000046.5(ARSB):c.*2571A>G
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G
NM_000046.5(ARSB):c.*2608G>A rs569254528
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*2654A>G
NM_000046.5(ARSB):c.*2672A>G rs886060780
NM_000046.5(ARSB):c.*2680C>T
NM_000046.5(ARSB):c.*2684G>A
NM_000046.5(ARSB):c.*2707C>T rs183918206
NM_000046.5(ARSB):c.*2708G>A rs141667208
NM_000046.5(ARSB):c.*2784C>A
NM_000046.5(ARSB):c.*2831T>A
NM_000046.5(ARSB):c.*2859T>C rs116826065
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.*3047T>C rs560253823
NM_000046.5(ARSB):c.*3147G>A
NM_000046.5(ARSB):c.*3152A>G rs886060779
NM_000046.5(ARSB):c.*3163T>C rs886060778
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*3181T>G rs11750774
NM_000046.5(ARSB):c.*340A>C
NM_000046.5(ARSB):c.*384T>A
NM_000046.5(ARSB):c.*420A>G
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*60G>A rs2173012
NM_000046.5(ARSB):c.*618C>T rs757857543
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*635C>G rs534480571
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*810C>T rs777160780
NM_000046.5(ARSB):c.*922C>T
NM_000046.5(ARSB):c.*933C>T
NM_000046.5(ARSB):c.*965A>G
NM_000046.5(ARSB):c.*990C>T rs886060793
NM_000046.5(ARSB):c.*994C>A
NM_000046.5(ARSB):c.-19G>A
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214-15A>T
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr) rs886060797
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_198709.3(ARSB):c.-112G>C rs886060798
NM_198709.3(ARSB):c.-187G>A rs529476939
NM_198709.3(ARSB):c.-239T>A rs115264286
NM_198709.3(ARSB):c.-246C>T rs180784385
NM_198709.3(ARSB):c.-265G>A rs72764913
NM_198709.3(ARSB):c.-276T>C rs534158632
NM_198709.3(ARSB):c.-301G>A rs886060799
NM_198709.3(ARSB):c.-302A>G rs163127
NM_198709.3(ARSB):c.-310-12dup rs11424557
NM_198709.3(ARSB):c.-310-21G>A rs538223324
NM_198709.3(ARSB):c.-310-98_-310-95del rs151289643
NM_198709.3(ARSB):c.-311+144T>C rs886060800
NM_198709.3(ARSB):c.-311+61A>T rs138175832
NM_198709.3(ARSB):c.-311+87A>G rs59558132

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