ClinVar Miner

List of variants in gene ARSL reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_000047.3(ARSL):c.307+9C>G rs369969850 0.00029
NM_000047.3(ARSL):c.854+18A>G rs186149776 0.00028
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_000047.3(ARSL):c.1056G>A (p.Ser352=) rs187110605 0.00007
NM_000047.3(ARSL):c.1164C>T (p.Arg388=) rs145964787 0.00007
NM_000047.3(ARSL):c.1362G>A (p.Met454Ile) rs763217030 0.00006
NM_000047.3(ARSL):c.1405C>T (p.Arg469Trp) rs761977883 0.00006
NM_000047.3(ARSL):c.888C>T (p.Ser296=) rs184888777 0.00006
NM_000047.3(ARSL):c.1192G>A (p.Val398Met) rs749325947 0.00005
NM_000047.3(ARSL):c.1127-15T>G rs746787848 0.00002
NM_000047.3(ARSL):c.873C>A (p.Phe291Leu) rs747636238 0.00002
NM_000047.3(ARSL):c.1419A>G (p.Thr473=) rs755373707 0.00001
NM_000047.3(ARSL):c.1467C>T (p.Ala489=) rs1329604316 0.00001
NM_000047.3(ARSL):c.1629G>A (p.Gln543=) rs753971115 0.00001
NM_000047.3(ARSL):c.1653A>T (p.Thr551=) rs772926810 0.00001
NM_000047.3(ARSL):c.1686G>C (p.Leu562=) rs1057523183 0.00001
NM_000047.3(ARSL):c.474T>C (p.His158=) rs2089436420 0.00001
NM_000047.3(ARSL):c.1008T>A (p.Thr336=)
NM_000047.3(ARSL):c.1014C>T (p.Asp338=) rs1242404525
NM_000047.3(ARSL):c.1026G>A (p.Leu342=)
NM_000047.3(ARSL):c.1035C>T (p.Ser345=)
NM_000047.3(ARSL):c.1041C>A (p.Leu347=)
NM_000047.3(ARSL):c.1047T>C (p.Tyr349=)
NM_000047.3(ARSL):c.1050T>C (p.Phe350=)
NM_000047.3(ARSL):c.1053G>A (p.Thr351=)
NM_000047.3(ARSL):c.1059T>C (p.Asp353=)
NM_000047.3(ARSL):c.1062C>T (p.His354=)
NM_000047.3(ARSL):c.1065C>A (p.Gly355=)
NM_000047.3(ARSL):c.1065C>T (p.Gly355=)
NM_000047.3(ARSL):c.1071C>G (p.Ser357=)
NM_000047.3(ARSL):c.1077G>A (p.Glu359=)
NM_000047.3(ARSL):c.108C>G (p.Ser36=)
NM_000047.3(ARSL):c.1092C>T (p.Asn364=)
NM_000047.3(ARSL):c.1126+13T>C
NM_000047.3(ARSL):c.1126+14G>A
NM_000047.3(ARSL):c.1127-10T>C
NM_000047.3(ARSL):c.1127-13T>C
NM_000047.3(ARSL):c.1127-19T>C
NM_000047.3(ARSL):c.1127-4C>G
NM_000047.3(ARSL):c.1127-5C>T
NM_000047.3(ARSL):c.1127-9C>T rs2089232090
NM_000047.3(ARSL):c.1134G>A (p.Lys378=)
NM_000047.3(ARSL):c.114G>C (p.Pro38=)
NM_000047.3(ARSL):c.114G>T (p.Pro38=)
NM_000047.3(ARSL):c.1164C>A (p.Arg388=)
NM_000047.3(ARSL):c.1170C>T (p.Pro390=)
NM_000047.3(ARSL):c.1176C>A (p.Ile392=)
NM_000047.3(ARSL):c.117C>T (p.Asn39=)
NM_000047.3(ARSL):c.1200G>A (p.Pro400=)
NM_000047.3(ARSL):c.1203C>T (p.Ala401=)
NM_000047.3(ARSL):c.1218C>A (p.Gly406=) rs758104330
NM_000047.3(ARSL):c.1218C>T (p.Gly406=)
NM_000047.3(ARSL):c.1227G>A (p.Thr409=)
NM_000047.3(ARSL):c.1239C>T (p.Asp413=)
NM_000047.3(ARSL):c.1251C>T (p.Thr417=)
NM_000047.3(ARSL):c.1266G>A (p.Ala422=)
NM_000047.3(ARSL):c.1269C>T (p.Gly423=)
NM_000047.3(ARSL):c.1272C>A (p.Gly424=)
NM_000047.3(ARSL):c.1272C>T (p.Gly424=)
NM_000047.3(ARSL):c.1284G>A (p.Gln428=)
NM_000047.3(ARSL):c.1299C>T (p.Asp433=)
NM_000047.3(ARSL):c.1338A>G (p.Gln446=)
NM_000047.3(ARSL):c.1350C>T (p.His450=)
NM_000047.3(ARSL):c.1357C>T (p.Leu453=)
NM_000047.3(ARSL):c.1359G>C (p.Leu453=)
NM_000047.3(ARSL):c.135G>A (p.Ala45=)
NM_000047.3(ARSL):c.1368T>C (p.Tyr456=)
NM_000047.3(ARSL):c.138C>T (p.Asp46=)
NM_000047.3(ARSL):c.1404A>G (p.Gln468=)
NM_000047.3(ARSL):c.1411+13G>A
NM_000047.3(ARSL):c.1411+14C>A
NM_000047.3(ARSL):c.1412-13_1412-12del
NM_000047.3(ARSL):c.1412-16A>T
NM_000047.3(ARSL):c.1431C>A (p.Val477=)
NM_000047.3(ARSL):c.1434C>T (p.His478=)
NM_000047.3(ARSL):c.1437T>C (p.Phe479=)
NM_000047.3(ARSL):c.1443G>A (p.Thr481=)
NM_000047.3(ARSL):c.1443G>C (p.Thr481=)
NM_000047.3(ARSL):c.1458A>G (p.Pro486=)
NM_000047.3(ARSL):c.1461G>A (p.Glu487=)
NM_000047.3(ARSL):c.1479T>C (p.Tyr493=)
NM_000047.3(ARSL):c.147C>T (p.Gly49=)
NM_000047.3(ARSL):c.1497G>A (p.Pro499=)
NM_000047.3(ARSL):c.1497G>C (p.Pro499=)
NM_000047.3(ARSL):c.1518C>A (p.Val506=)
NM_000047.3(ARSL):c.1524C>T (p.His508=)
NM_000047.3(ARSL):c.1581A>G (p.Thr527=)
NM_000047.3(ARSL):c.1596C>T (p.Pro532=)
NM_000047.3(ARSL):c.1611G>A (p.Val537=)
NM_000047.3(ARSL):c.1619G>A (p.Arg540Gln)
NM_000047.3(ARSL):c.1620A>G (p.Arg540=)
NM_000047.3(ARSL):c.1626G>A (p.Gln542=)
NM_000047.3(ARSL):c.1632G>A (p.Ala544=)
NM_000047.3(ARSL):c.1635G>A (p.Val545=)
NM_000047.3(ARSL):c.1659C>T (p.Ser553=)
NM_000047.3(ARSL):c.1665T>C (p.Val555=)
NM_000047.3(ARSL):c.168T>C (p.Tyr56=)
NM_000047.3(ARSL):c.185+13G>C
NM_000047.3(ARSL):c.185+18A>G
NM_000047.3(ARSL):c.185+20T>C
NM_000047.3(ARSL):c.186-10C>A
NM_000047.3(ARSL):c.186-6C>T
NM_000047.3(ARSL):c.192G>A (p.Pro64=)
NM_000047.3(ARSL):c.219C>G (p.Gly73=)
NM_000047.3(ARSL):c.222G>A (p.Val74=)
NM_000047.3(ARSL):c.23+15T>C
NM_000047.3(ARSL):c.23+19C>T
NM_000047.3(ARSL):c.23+9C>A
NM_000047.3(ARSL):c.237C>T (p.His79=)
NM_000047.3(ARSL):c.24-12A>C
NM_000047.3(ARSL):c.24-12A>G
NM_000047.3(ARSL):c.246C>T (p.Ala82=)
NM_000047.3(ARSL):c.27G>A (p.Leu9=)
NM_000047.3(ARSL):c.282C>T (p.Leu94=)
NM_000047.3(ARSL):c.285G>A (p.Thr95=)
NM_000047.3(ARSL):c.307+18A>G
NM_000047.3(ARSL):c.307+19C>G
NM_000047.3(ARSL):c.308-12_308-10del
NM_000047.3(ARSL):c.327T>C (p.Gly109=)
NM_000047.3(ARSL):c.348C>G (p.Thr116=)
NM_000047.3(ARSL):c.348C>T (p.Thr116=)
NM_000047.3(ARSL):c.372A>C (p.Thr124=)
NM_000047.3(ARSL):c.430+19G>C
NM_000047.3(ARSL):c.430+9G>A
NM_000047.3(ARSL):c.430+9G>C
NM_000047.3(ARSL):c.431-15C>T
NM_000047.3(ARSL):c.431-16C>T
NM_000047.3(ARSL):c.431-18A>C
NM_000047.3(ARSL):c.431-7C>T
NM_000047.3(ARSL):c.431-8C>T
NM_000047.3(ARSL):c.431-9G>C
NM_000047.3(ARSL):c.513C>T (p.Tyr171=)
NM_000047.3(ARSL):c.51G>A (p.Ala17=)
NM_000047.3(ARSL):c.543C>T (p.Cys181=)
NM_000047.3(ARSL):c.57C>T (p.Leu19=)
NM_000047.3(ARSL):c.60T>C (p.Ala20=) rs753424605
NM_000047.3(ARSL):c.639A>G (p.Ala213=)
NM_000047.3(ARSL):c.663C>T (p.Pro221=)
NM_000047.3(ARSL):c.669G>A (p.Ser223=)
NM_000047.3(ARSL):c.678G>A (p.Pro226=)
NM_000047.3(ARSL):c.681C>T (p.Val227=)
NM_000047.3(ARSL):c.693C>G (p.Ala231=)
NM_000047.3(ARSL):c.696T>G (p.Leu232=)
NM_000047.3(ARSL):c.699G>A (p.Ser233=)
NM_000047.3(ARSL):c.702C>T (p.Ala234=)
NM_000047.3(ARSL):c.750T>C (p.His250=)
NM_000047.3(ARSL):c.753C>G (p.Ala251=)
NM_000047.3(ARSL):c.753C>T (p.Ala251=)
NM_000047.3(ARSL):c.756T>C (p.Asp252=)
NM_000047.3(ARSL):c.763C>T (p.Leu255=)
NM_000047.3(ARSL):c.78A>T (p.Ala26=)
NM_000047.3(ARSL):c.801C>T (p.Cys267=)
NM_000047.3(ARSL):c.813G>A (p.Thr271=)
NM_000047.3(ARSL):c.819C>G (p.Pro273=) rs763836878
NM_000047.3(ARSL):c.819C>T (p.Pro273=)
NM_000047.3(ARSL):c.837T>C (p.Val279=)
NM_000047.3(ARSL):c.854+16T>C
NM_000047.3(ARSL):c.854+7A>T
NM_000047.3(ARSL):c.855-14G>A
NM_000047.3(ARSL):c.855-16T>C
NM_000047.3(ARSL):c.855-8A>G
NM_000047.3(ARSL):c.909T>C (p.Pro303=)
NM_000047.3(ARSL):c.933C>T (p.Leu311=)
NM_000047.3(ARSL):c.936G>A (p.Gly312=)
NM_000047.3(ARSL):c.93C>T (p.Ser31=)
NM_000047.3(ARSL):c.948C>T (p.His316=)
NM_000047.3(ARSL):c.951G>A (p.Gly317=)
NM_000047.3(ARSL):c.954G>C (p.Leu318=)
NM_000047.3(ARSL):c.960G>A (p.Gly320=)
NM_000047.3(ARSL):c.966C>T (p.Asn322=)
NM_000047.3(ARSL):c.969A>C (p.Val323=)
NM_000047.3(ARSL):c.981C>T (p.Asp327=)
NM_000047.3(ARSL):c.991+10C>A
NM_000047.3(ARSL):c.991+17G>A
NM_000047.3(ARSL):c.992-13C>A

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