ClinVar Miner

List of variants in gene ARSB reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
NM_000046.5(ARSB):c.1142+7A>T
NM_000046.5(ARSB):c.1142+9A>C
NM_000046.5(ARSB):c.1143-4C>A
NM_000046.5(ARSB):c.1143-5T>C rs777189032
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
NM_000046.5(ARSB):c.1336+7del rs748129076
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1337-6T>C
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
NM_000046.5(ARSB):c.1590C>A (p.Gly530=) rs1580960941
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
NM_000046.5(ARSB):c.240G>A (p.Val80=)
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
NM_000046.5(ARSB):c.312+8G>A
NM_000046.5(ARSB):c.312+8G>C rs774555967
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
NM_000046.5(ARSB):c.429C>T (p.Val143=)
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
NM_000046.5(ARSB):c.499+10A>G
NM_000046.5(ARSB):c.499+7G>A
NM_000046.5(ARSB):c.500-10A>G
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.691-6T>C
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595
NM_000046.5(ARSB):c.76CTG[4] (p.Leu32del) rs752671202
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.9G>C (p.Pro3=)

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