ClinVar Miner

List of variants reported as likely benign for 2-aminoadipic 2-oxoadipic aciduria by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala) rs147571909 0.00424
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg) rs147938299 0.00240
NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr) rs141676270 0.00156
NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn) rs140386798 0.00089
NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=) rs149564288 0.00086
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg) rs34033944 0.00084
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=) rs199768968 0.00025
NM_018706.7(DHTKD1):c.1220G>A (p.Arg407His) rs201455968 0.00023
NM_018706.7(DHTKD1):c.2048-4C>T rs375385370 0.00022
NM_018706.7(DHTKD1):c.2427C>T (p.Ser809=) rs144376657 0.00022
NM_018706.7(DHTKD1):c.2169G>A (p.Ala723=) rs770278866 0.00016
NM_018706.7(DHTKD1):c.945A>G (p.Pro315=) rs144254844 0.00016
NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=) rs140878433 0.00015
NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=) rs375353018 0.00014
NM_018706.7(DHTKD1):c.2047+12C>T rs368839395 0.00011
NM_018706.7(DHTKD1):c.2154+19G>A rs375269543 0.00011
NM_018706.7(DHTKD1):c.2520C>T (p.Pro840=) rs540552818 0.00011
NM_018706.7(DHTKD1):c.294A>C (p.Gly98=) rs199959700 0.00010
NM_018706.7(DHTKD1):c.744A>G (p.Leu248=) rs370385309 0.00010
NM_018706.7(DHTKD1):c.1998C>T (p.Gly666=) rs144891795 0.00009
NM_018706.7(DHTKD1):c.2526G>A (p.Pro842=) rs143353830 0.00009
NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=) rs139445220 0.00009
NM_018706.7(DHTKD1):c.930C>T (p.Asp310=) rs149203530 0.00009
NM_018706.7(DHTKD1):c.1419G>A (p.Thr473=) rs370218003 0.00007
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met) rs755976465 0.00006
NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=) rs544154603 0.00006
NM_018706.7(DHTKD1):c.717+12C>T rs548903016 0.00006
NM_018706.7(DHTKD1):c.1897-15C>T rs767082732 0.00005
NM_018706.7(DHTKD1):c.2048-18C>A rs532827857 0.00005
NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=) rs112910106 0.00004
NM_018706.7(DHTKD1):c.1650C>T (p.His550=) rs375209596 0.00004
NM_018706.7(DHTKD1):c.2154+11C>T rs771483975 0.00004
NM_018706.7(DHTKD1):c.2251A>C (p.Arg751=) rs781551352 0.00004
NM_018706.7(DHTKD1):c.576C>T (p.Gly192=) rs543081107 0.00004
NM_018706.7(DHTKD1):c.627G>A (p.Ser209=) rs745332525 0.00004
NM_018706.7(DHTKD1):c.636C>T (p.Ser212=) rs772308172 0.00004
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=) rs556079764 0.00004
NM_018706.7(DHTKD1):c.155-20T>A rs777435388 0.00003
NM_018706.7(DHTKD1):c.2016C>T (p.Ala672=) rs750587155 0.00003
NM_018706.7(DHTKD1):c.2048-16C>T rs752596009 0.00003
NM_018706.7(DHTKD1):c.2250G>A (p.Arg750=) rs371391583 0.00003
NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=) rs755569908 0.00003
NM_018706.7(DHTKD1):c.2403-7C>G rs552132988 0.00003
NM_018706.7(DHTKD1):c.2652C>T (p.Ala884=) rs755776129 0.00003
NM_018706.7(DHTKD1):c.311-20C>G rs368615319 0.00003
NM_018706.7(DHTKD1):c.555G>A (p.Ser185=) rs1157871671 0.00003
NM_018706.7(DHTKD1):c.988-18C>T rs371869013 0.00003
NM_018706.7(DHTKD1):c.1113C>A (p.Thr371=) rs191543372 0.00002
NM_018706.7(DHTKD1):c.154+19G>A rs767736649 0.00002
NM_018706.7(DHTKD1):c.2031C>T (p.Asp677=) rs779425467 0.00002
NM_018706.7(DHTKD1):c.2103C>T (p.Tyr701=) rs766801757 0.00002
NM_018706.7(DHTKD1):c.2319+12G>A rs750847492 0.00002
NM_018706.7(DHTKD1):c.2370G>A (p.Pro790=) rs745636733 0.00002
NM_018706.7(DHTKD1):c.306G>A (p.Thr102=) rs775431352 0.00002
NM_018706.7(DHTKD1):c.717+13G>A rs778027470 0.00002
NM_018706.7(DHTKD1):c.780C>T (p.Asp260=) rs143069945 0.00002
NM_018706.7(DHTKD1):c.9T>A (p.Ser3=) rs367959044 0.00002
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=) rs766251442 0.00001
NM_018706.7(DHTKD1):c.1257C>T (p.Phe419=) rs775165668 0.00001
NM_018706.7(DHTKD1):c.1358+19G>A rs760227108 0.00001
NM_018706.7(DHTKD1):c.1358+20T>C rs766003951 0.00001
NM_018706.7(DHTKD1):c.1358+9A>G rs1270166462 0.00001
NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=) rs760150534 0.00001
NM_018706.7(DHTKD1):c.1533C>T (p.Gly511=) rs372588654 0.00001
NM_018706.7(DHTKD1):c.154+20C>A rs1183216028 0.00001
NM_018706.7(DHTKD1):c.1557C>T (p.Ile519=) rs759650263 0.00001
NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=) rs1588612349 0.00001
NM_018706.7(DHTKD1):c.1839G>A (p.Thr613=) rs202019251 0.00001
NM_018706.7(DHTKD1):c.1980G>T (p.Leu660=) rs1050041160 0.00001
NM_018706.7(DHTKD1):c.2226T>C (p.Pro742=) rs150685876 0.00001
NM_018706.7(DHTKD1):c.2412C>A (p.Thr804=) rs765729432 0.00001
NM_018706.7(DHTKD1):c.243C>T (p.Ala81=) rs375541349 0.00001
NM_018706.7(DHTKD1):c.255T>C (p.Asn85=) rs755459607 0.00001
NM_018706.7(DHTKD1):c.2667G>A (p.Leu889=) rs781702712 0.00001
NM_018706.7(DHTKD1):c.408A>G (p.Gln136=) rs1161663539 0.00001
NM_018706.7(DHTKD1):c.495T>C (p.His165=) rs1298715789 0.00001
NM_018706.7(DHTKD1):c.522+11G>T rs771751313 0.00001
NM_018706.7(DHTKD1):c.600C>T (p.Gly200=) rs752556444 0.00001
NM_018706.7(DHTKD1):c.906C>T (p.Arg302=) rs779076881 0.00001
NC_000010.10:g.(?_12111033)_(12140015_?)dup
NC_000010.10:g.(?_12143021)_(12162887_?)dup
NC_000010.10:g.(?_12159652)_(12162887_?)del
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=) rs1195184698
NM_018706.7(DHTKD1):c.105G>A (p.Pro35=)
NM_018706.7(DHTKD1):c.1084T>C (p.Leu362=)
NM_018706.7(DHTKD1):c.1110C>T (p.Tyr370=)
NM_018706.7(DHTKD1):c.1141T>C (p.Leu381=)
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)
NM_018706.7(DHTKD1):c.1159+12A>G
NM_018706.7(DHTKD1):c.1159+19A>G
NM_018706.7(DHTKD1):c.1160-13T>G rs2131362514
NM_018706.7(DHTKD1):c.1160-18T>C
NM_018706.7(DHTKD1):c.1161G>A (p.Gly387=)
NM_018706.7(DHTKD1):c.1191C>G (p.Val397=) rs758294466
NM_018706.7(DHTKD1):c.1194T>C (p.Asn398=)
NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)
NM_018706.7(DHTKD1):c.1245C>T (p.Tyr415=)
NM_018706.7(DHTKD1):c.1305C>T (p.His435=)
NM_018706.7(DHTKD1):c.1358+16C>T
NM_018706.7(DHTKD1):c.1359-13_1359-12del
NM_018706.7(DHTKD1):c.1389A>G (p.Ala463=)
NM_018706.7(DHTKD1):c.138C>T (p.Ala46=)
NM_018706.7(DHTKD1):c.1407C>T (p.Gly469=) rs80324702
NM_018706.7(DHTKD1):c.1428G>A (p.Glu476=)
NM_018706.7(DHTKD1):c.1434T>C (p.Ser478=)
NM_018706.7(DHTKD1):c.1437A>G (p.Glu479=)
NM_018706.7(DHTKD1):c.1458C>T (p.Ala486=)
NM_018706.7(DHTKD1):c.1461G>A (p.Lys487=)
NM_018706.7(DHTKD1):c.1479T>C (p.Asn493=)
NM_018706.7(DHTKD1):c.154+15C>T
NM_018706.7(DHTKD1):c.154+18G>A
NM_018706.7(DHTKD1):c.154+8A>G
NM_018706.7(DHTKD1):c.155-11C>T
NM_018706.7(DHTKD1):c.156T>C (p.Val52=) rs1160225038
NM_018706.7(DHTKD1):c.1587C>T (p.Asp529=)
NM_018706.7(DHTKD1):c.1594C>A (p.Arg532=)
NM_018706.7(DHTKD1):c.1596G>A (p.Arg532=) rs2131365440
NM_018706.7(DHTKD1):c.1596G>T (p.Arg532=)
NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)
NM_018706.7(DHTKD1):c.1656G>A (p.Leu552=) rs2131365510
NM_018706.7(DHTKD1):c.1662A>G (p.Thr554=)
NM_018706.7(DHTKD1):c.1671+14A>G
NM_018706.7(DHTKD1):c.1671+9C>G
NM_018706.7(DHTKD1):c.1672-19dup
NM_018706.7(DHTKD1):c.1672-20T>A rs1275272258
NM_018706.7(DHTKD1):c.1672-20T>C
NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)
NM_018706.7(DHTKD1):c.1719C>T (p.Thr573=) rs376488113
NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)
NM_018706.7(DHTKD1):c.1722G>C (p.Ala574=)
NM_018706.7(DHTKD1):c.1725A>G (p.Glu575=)
NM_018706.7(DHTKD1):c.1728T>G (p.Ala576=)
NM_018706.7(DHTKD1):c.1756+10T>G
NM_018706.7(DHTKD1):c.1756+12C>A
NM_018706.7(DHTKD1):c.1756+12C>G
NM_018706.7(DHTKD1):c.1756+12C>T
NM_018706.7(DHTKD1):c.1756+12del rs371403192
NM_018706.7(DHTKD1):c.1756+13T>G
NM_018706.7(DHTKD1):c.1756+13_1756+14insATTTTTTTTCTGT
NM_018706.7(DHTKD1):c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+18T>A
NM_018706.7(DHTKD1):c.1756+18T>C
NM_018706.7(DHTKD1):c.1756+20T>A
NM_018706.7(DHTKD1):c.1756+20T>C
NM_018706.7(DHTKD1):c.1756+20_1756+21insCTGTTTTTTT
NM_018706.7(DHTKD1):c.1756+21_1756+22insCTGTTTTTTTTT rs1554792993
NM_018706.7(DHTKD1):c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+21_1756+22insGTGTTTTTT
NM_018706.7(DHTKD1):c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTT rs375494996
NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT
NM_018706.7(DHTKD1):c.1756+23_1756+34del
NM_018706.7(DHTKD1):c.1756+23_1756+39del
NM_018706.7(DHTKD1):c.1756+7A>T
NM_018706.7(DHTKD1):c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT
NM_018706.7(DHTKD1):c.1757-12T>C
NM_018706.7(DHTKD1):c.1757-14dup
NM_018706.7(DHTKD1):c.1757-7G>A
NM_018706.7(DHTKD1):c.1764T>C (p.Asn588=)
NM_018706.7(DHTKD1):c.1824G>C (p.Val608=) rs2131616416
NM_018706.7(DHTKD1):c.1845C>T (p.Asp615=)
NM_018706.7(DHTKD1):c.1857C>T (p.Pro619=)
NM_018706.7(DHTKD1):c.1872C>T (p.Asp624=)
NM_018706.7(DHTKD1):c.1884G>A (p.Lys628=) rs535103210
NM_018706.7(DHTKD1):c.1893A>G (p.Leu631=)
NM_018706.7(DHTKD1):c.1896+14A>G
NM_018706.7(DHTKD1):c.1896+16A>G
NM_018706.7(DHTKD1):c.1896+19T>G
NM_018706.7(DHTKD1):c.1897-6G>C
NM_018706.7(DHTKD1):c.1899C>T (p.Val633=)
NM_018706.7(DHTKD1):c.1920A>G (p.Glu640=)
NM_018706.7(DHTKD1):c.1926C>G (p.Ala642=)
NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)
NM_018706.7(DHTKD1):c.192T>C (p.Cys64=)
NM_018706.7(DHTKD1):c.1960A>T (p.Ser654Cys)
NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=) rs199541122
NM_018706.7(DHTKD1):c.2007C>T (p.Phe669=)
NM_018706.7(DHTKD1):c.2022C>T (p.Ile674=) rs1457060881
NM_018706.7(DHTKD1):c.2047+13G>A
NM_018706.7(DHTKD1):c.2047+16T>C rs1833248223
NM_018706.7(DHTKD1):c.2047+9C>T
NM_018706.7(DHTKD1):c.2048-15G>A
NM_018706.7(DHTKD1):c.2048-18C>T
NM_018706.7(DHTKD1):c.2048-32_2048-10del rs1368208385
NM_018706.7(DHTKD1):c.2064C>T (p.Leu688=)
NM_018706.7(DHTKD1):c.2088C>T (p.Leu696=)
NM_018706.7(DHTKD1):c.2154+12G>A
NM_018706.7(DHTKD1):c.2154+18C>T
NM_018706.7(DHTKD1):c.2155-14C>T
NM_018706.7(DHTKD1):c.2155-15C>T
NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)
NM_018706.7(DHTKD1):c.2229A>G (p.Ala743=)
NM_018706.7(DHTKD1):c.2238C>T (p.Phe746=)
NM_018706.7(DHTKD1):c.2319+11G>A
NM_018706.7(DHTKD1):c.2319+19del
NM_018706.7(DHTKD1):c.2320-11C>T
NM_018706.7(DHTKD1):c.2320-12T>G
NM_018706.7(DHTKD1):c.2320-14C>G
NM_018706.7(DHTKD1):c.2320-9C>G
NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)
NM_018706.7(DHTKD1):c.2402+18_2402+19del
NM_018706.7(DHTKD1):c.2402+9T>C
NM_018706.7(DHTKD1):c.2403-16del
NM_018706.7(DHTKD1):c.2403-18T>C rs2131628932
NM_018706.7(DHTKD1):c.2415C>A (p.Leu805=)
NM_018706.7(DHTKD1):c.2415C>T (p.Leu805=) rs1460366028
NM_018706.7(DHTKD1):c.2430C>G (p.Gly810=)
NM_018706.7(DHTKD1):c.2442C>T (p.Tyr814=)
NM_018706.7(DHTKD1):c.2445C>T (p.Ser815=) rs1833467254
NM_018706.7(DHTKD1):c.2469G>A (p.Leu823=)
NM_018706.7(DHTKD1):c.246G>A (p.Leu82=)
NM_018706.7(DHTKD1):c.2517C>T (p.Cys839=)
NM_018706.7(DHTKD1):c.2527T>C (p.Leu843=)
NM_018706.7(DHTKD1):c.2572+9T>C
NM_018706.7(DHTKD1):c.2573-12C>G rs1399609087
NM_018706.7(DHTKD1):c.258G>A (p.Val86=)
NM_018706.7(DHTKD1):c.258G>T (p.Val86=)
NM_018706.7(DHTKD1):c.2613G>C (p.Pro871=)
NM_018706.7(DHTKD1):c.2619G>A (p.Ser873=)
NM_018706.7(DHTKD1):c.2634G>A (p.Arg878=)
NM_018706.7(DHTKD1):c.2649G>A (p.Leu883=)
NM_018706.7(DHTKD1):c.2658+10C>T rs1833504194
NM_018706.7(DHTKD1):c.2658+11G>A
NM_018706.7(DHTKD1):c.2658+7A>C
NM_018706.7(DHTKD1):c.2659-11T>G
NM_018706.7(DHTKD1):c.2659-18_2659-16del
NM_018706.7(DHTKD1):c.2659-20C>A
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_018706.7(DHTKD1):c.2727G>A (p.Gln909=)
NM_018706.7(DHTKD1):c.2751C>G (p.Thr917=)
NM_018706.7(DHTKD1):c.279G>A (p.Val93=)
NM_018706.7(DHTKD1):c.285A>G (p.Thr95=)
NM_018706.7(DHTKD1):c.300C>T (p.Phe100=)
NM_018706.7(DHTKD1):c.310+10C>T
NM_018706.7(DHTKD1):c.310+12G>A
NM_018706.7(DHTKD1):c.310+16A>C rs1424663132
NM_018706.7(DHTKD1):c.311-14A>G
NM_018706.7(DHTKD1):c.311-17T>A
NM_018706.7(DHTKD1):c.315A>G (p.Leu105=) rs1313880752
NM_018706.7(DHTKD1):c.330G>A (p.Lys110=)
NM_018706.7(DHTKD1):c.36C>A (p.Gly12=) rs972872618
NM_018706.7(DHTKD1):c.417C>T (p.Ser139=)
NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)
NM_018706.7(DHTKD1):c.447G>T (p.Arg149=)
NM_018706.7(DHTKD1):c.471G>A (p.Thr157=)
NM_018706.7(DHTKD1):c.486G>A (p.Glu162=)
NM_018706.7(DHTKD1):c.489A>C (p.Arg163=)
NM_018706.7(DHTKD1):c.498G>A (p.Leu166=)
NM_018706.7(DHTKD1):c.501G>A (p.Ser167=)
NM_018706.7(DHTKD1):c.501G>T (p.Ser167=)
NM_018706.7(DHTKD1):c.522+12C>A
NM_018706.7(DHTKD1):c.522+12C>T
NM_018706.7(DHTKD1):c.522+19G>C
NM_018706.7(DHTKD1):c.522+8G>A
NM_018706.7(DHTKD1):c.522+9G>T
NM_018706.7(DHTKD1):c.523-12G>A
NM_018706.7(DHTKD1):c.523-14A>G
NM_018706.7(DHTKD1):c.523-14A>T
NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)
NM_018706.7(DHTKD1):c.543C>A (p.Ala181=) rs774720865
NM_018706.7(DHTKD1):c.543C>T (p.Ala181=) rs774720865
NM_018706.7(DHTKD1):c.558A>G (p.Thr186=)
NM_018706.7(DHTKD1):c.564G>A (p.Lys188=)
NM_018706.7(DHTKD1):c.606C>T (p.Phe202=)
NM_018706.7(DHTKD1):c.684T>C (p.Asn228=) rs1564391006
NM_018706.7(DHTKD1):c.696C>G (p.Gly232=)
NM_018706.7(DHTKD1):c.6C>T (p.Ala2=)
NM_018706.7(DHTKD1):c.700C>T (p.Leu234=)
NM_018706.7(DHTKD1):c.714A>G (p.Pro238=)
NM_018706.7(DHTKD1):c.717+13G>T
NM_018706.7(DHTKD1):c.717+16G>T
NM_018706.7(DHTKD1):c.718-11A>G
NM_018706.7(DHTKD1):c.718-13G>A
NM_018706.7(DHTKD1):c.718-15A>G
NM_018706.7(DHTKD1):c.718-7A>G
NM_018706.7(DHTKD1):c.736C>A (p.Arg246=)
NM_018706.7(DHTKD1):c.765C>T (p.Phe255=)
NM_018706.7(DHTKD1):c.792C>T (p.His264=)
NM_018706.7(DHTKD1):c.819T>C (p.Phe273=)
NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)
NM_018706.7(DHTKD1):c.834C>G (p.Pro278=)
NM_018706.7(DHTKD1):c.837C>G (p.Leu279=)
NM_018706.7(DHTKD1):c.846A>C (p.Thr282=)
NM_018706.7(DHTKD1):c.846A>G (p.Thr282=)
NM_018706.7(DHTKD1):c.867C>T (p.His289=)
NM_018706.7(DHTKD1):c.868C>T (p.Leu290=)
NM_018706.7(DHTKD1):c.879C>G (p.Val293=)
NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)
NM_018706.7(DHTKD1):c.888G>A (p.Val296=)
NM_018706.7(DHTKD1):c.891C>G (p.Ala297=) rs576048100
NM_018706.7(DHTKD1):c.891C>T (p.Ala297=)
NM_018706.7(DHTKD1):c.897C>T (p.Gly299=)
NM_018706.7(DHTKD1):c.909C>T (p.Gly303=)
NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)
NM_018706.7(DHTKD1):c.93C>T (p.Tyr31=)
NM_018706.7(DHTKD1):c.963G>A (p.Pro321=) rs377143488
NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)
NM_018706.7(DHTKD1):c.963G>T (p.Pro321=)
NM_018706.7(DHTKD1):c.966G>C (p.Gly322=)
NM_018706.7(DHTKD1):c.984A>G (p.Leu328=)

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