ClinVar Miner

List of variants in gene LONP1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_004793.4(LONP1):c.767C>T (p.Ala256Val) rs116591583 0.00161
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn) rs149169865 0.00149
NM_004793.4(LONP1):c.2711G>A (p.Arg904His) rs112807920 0.00119
NM_004793.4(LONP1):c.1817C>T (p.Ala606Val) rs145519500 0.00100
NM_004793.4(LONP1):c.1876G>A (p.Val626Met) rs147307965 0.00073
NM_004793.4(LONP1):c.527C>T (p.Ser176Leu) rs139555567 0.00058
NM_004793.4(LONP1):c.83G>C (p.Gly28Ala) rs541961432 0.00054
NM_004793.4(LONP1):c.1600C>T (p.Arg534Cys) rs150732086 0.00039
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met) rs371606894 0.00019
NM_004793.4(LONP1):c.2542G>A (p.Ala848Thr) rs147591431 0.00019
NM_004793.4(LONP1):c.2203G>A (p.Val735Met) rs200317240 0.00018
NM_004793.4(LONP1):c.2806G>A (p.Val936Met) rs367780804 0.00016
NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser) rs373661439 0.00014
NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu) rs373182816 0.00010
NM_004793.4(LONP1):c.661G>A (p.Glu221Lys) rs758815144 0.00009
NM_004793.4(LONP1):c.2853G>C (p.Gln951His) rs370434508 0.00007
NM_004793.4(LONP1):c.2013+6C>T rs1025252513 0.00006
NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys) rs777009012 0.00006
NM_004793.4(LONP1):c.613C>T (p.Arg205Cys) rs758142635 0.00005
NM_004793.4(LONP1):c.58C>T (p.Arg20Trp) rs757899954 0.00004
NM_004793.4(LONP1):c.2113C>T (p.Arg705Cys) rs199769453 0.00003
NM_004793.4(LONP1):c.2114G>A (p.Arg705His) rs377507199 0.00003
NM_004793.4(LONP1):c.2723C>T (p.Thr908Met) rs1382601981 0.00003
NM_004793.4(LONP1):c.1061A>G (p.Asn354Ser) rs560638601 0.00002
NM_004793.4(LONP1):c.1252G>A (p.Glu418Lys) rs1316190099 0.00002
NM_004793.4(LONP1):c.1300G>A (p.Val434Ile) rs372513902 0.00002
NM_004793.4(LONP1):c.1639T>C (p.Phe547Leu) rs779275628 0.00002
NM_004793.4(LONP1):c.1882G>A (p.Val628Met) rs756247881 0.00002
NM_004793.4(LONP1):c.2036G>A (p.Arg679His) rs549574673 0.00002
NM_004793.4(LONP1):c.2197G>A (p.Glu733Lys) rs758802403 0.00002
NM_004793.4(LONP1):c.2275G>A (p.Val759Met) rs202064670 0.00002
NM_004793.4(LONP1):c.2482C>T (p.His828Tyr) rs766992987 0.00002
NM_004793.4(LONP1):c.2780T>C (p.Ile927Thr) rs1248625758 0.00002
NM_004793.4(LONP1):c.2830G>C (p.Asp944His) rs138631909 0.00002
NM_004793.4(LONP1):c.1358C>T (p.Ser453Leu) rs780593199 0.00001
NM_004793.4(LONP1):c.1433T>C (p.Leu478Pro) rs1380012657 0.00001
NM_004793.4(LONP1):c.146C>T (p.Ser49Phe) rs1282360301 0.00001
NM_004793.4(LONP1):c.1514T>C (p.Ile505Thr) rs750762912 0.00001
NM_004793.4(LONP1):c.1637G>A (p.Arg546His) rs148761187 0.00001
NM_004793.4(LONP1):c.1753C>T (p.Pro585Ser) rs756969382 0.00001
NM_004793.4(LONP1):c.2035C>T (p.Arg679Cys) rs755945079 0.00001
NM_004793.4(LONP1):c.2188G>A (p.Gly730Ser) rs748276414 0.00001
NM_004793.4(LONP1):c.2191G>A (p.Glu731Lys) rs768949488 0.00001
NM_004793.4(LONP1):c.239C>T (p.Ser80Leu) rs781065201 0.00001
NM_004793.4(LONP1):c.241G>A (p.Gly81Arg) rs751508398 0.00001
NM_004793.4(LONP1):c.2444G>A (p.Arg815His) rs777581443 0.00001
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys) rs752945140 0.00001
NM_004793.4(LONP1):c.2566G>A (p.Ala856Thr) rs755394304 0.00001
NM_004793.4(LONP1):c.2587G>T (p.Ala863Ser) rs1221324102 0.00001
NM_004793.4(LONP1):c.2702C>T (p.Ala901Val) rs562878082 0.00001
NM_004793.4(LONP1):c.2703+4A>G rs368165299 0.00001
NM_004793.4(LONP1):c.2797G>A (p.Val933Met) rs2054835056 0.00001
NM_004793.4(LONP1):c.2842C>T (p.Pro948Ser) rs1351587881 0.00001
NM_004793.4(LONP1):c.2875C>T (p.Arg959Trp) rs1020325457 0.00001
NM_004793.4(LONP1):c.398C>T (p.Pro133Leu) rs777582302 0.00001
NM_004793.4(LONP1):c.429+2_429+5dup rs769553549 0.00001
NM_004793.4(LONP1):c.538G>A (p.Glu180Lys) rs745948000 0.00001
NM_004793.4(LONP1):c.703C>T (p.Pro235Ser) rs1459401410 0.00001
NM_004793.4(LONP1):c.784C>T (p.Pro262Ser) rs1360044854 0.00001
NM_004793.4(LONP1):c.890T>C (p.Val297Ala) rs774497941 0.00001
NM_004793.4(LONP1):c.976G>C (p.Asp326His) rs2055171714 0.00001
NC_000019.9:g.(?_5696045)_(5707174_?)dup
NC_000019.9:g.(?_5700780)_(5720143_?)dup
NC_000019.9:g.(?_5711762)_(5714302_?)del
NC_000019.9:g.(?_5719695)_(5720143_?)dup
NM_004793.4(LONP1):c.1000A>G (p.Met334Val)
NM_004793.4(LONP1):c.1009G>A (p.Ala337Thr)
NM_004793.4(LONP1):c.1021G>C (p.Ala341Pro)
NM_004793.4(LONP1):c.1024G>A (p.Glu342Lys)
NM_004793.4(LONP1):c.1026G>T (p.Glu342Asp)
NM_004793.4(LONP1):c.1031A>G (p.His344Arg)
NM_004793.4(LONP1):c.1056G>C (p.Glu352Asp)
NM_004793.4(LONP1):c.1060A>G (p.Asn354Asp)
NM_004793.4(LONP1):c.1062T>C (p.Asn354=)
NM_004793.4(LONP1):c.1063-3C>T
NM_004793.4(LONP1):c.1073G>C (p.Arg358Pro) rs752610066
NM_004793.4(LONP1):c.1123C>A (p.Leu375Met)
NM_004793.4(LONP1):c.1130A>G (p.Gln377Arg)
NM_004793.4(LONP1):c.1174C>T (p.Arg392Cys)
NM_004793.4(LONP1):c.117G>T (p.Leu39Phe)
NM_004793.4(LONP1):c.1246G>A (p.Ala416Thr)
NM_004793.4(LONP1):c.1264C>T (p.Arg422Trp)
NM_004793.4(LONP1):c.1270C>T (p.Arg424Cys) rs1037684027
NM_004793.4(LONP1):c.1285G>A (p.Val429Met)
NM_004793.4(LONP1):c.1303A>G (p.Met435Val)
NM_004793.4(LONP1):c.1304T>C (p.Met435Thr)
NM_004793.4(LONP1):c.1318G>A (p.Glu440Lys)
NM_004793.4(LONP1):c.1330_1338dup (p.Gly446_Leu447insLysLeuGly)
NM_004793.4(LONP1):c.134C>T (p.Thr45Ile)
NM_004793.4(LONP1):c.1355C>G (p.Ser452Cys)
NM_004793.4(LONP1):c.1367+3G>A
NM_004793.4(LONP1):c.1375C>T (p.Arg459Cys)
NM_004793.4(LONP1):c.1397C>T (p.Thr466Met)
NM_004793.4(LONP1):c.1421G>C (p.Ser474Thr)
NM_004793.4(LONP1):c.1426G>A (p.Glu476Lys)
NM_004793.4(LONP1):c.1438C>G (p.Leu480Val)
NM_004793.4(LONP1):c.1468G>A (p.Asp490Asn)
NM_004793.4(LONP1):c.1486G>A (p.Asp496Asn) rs1296975018
NM_004793.4(LONP1):c.14C>T (p.Thr5Ile) rs2055415429
NM_004793.4(LONP1):c.1501A>G (p.Ile501Val)
NM_004793.4(LONP1):c.1507G>C (p.Glu503Gln)
NM_004793.4(LONP1):c.1513A>G (p.Ile505Val)
NM_004793.4(LONP1):c.1524C>G (p.Ser508Arg)
NM_004793.4(LONP1):c.1528C>G (p.Leu510Val)
NM_004793.4(LONP1):c.152C>T (p.Pro51Leu)
NM_004793.4(LONP1):c.1532G>A (p.Arg511His)
NM_004793.4(LONP1):c.1554C>G (p.Ile518Met)
NM_004793.4(LONP1):c.1558T>A (p.Cys520Ser)
NM_004793.4(LONP1):c.1558del (p.Cys520fs)
NM_004793.4(LONP1):c.158C>T (p.Ala53Val)
NM_004793.4(LONP1):c.1615G>A (p.Ala539Thr)
NM_004793.4(LONP1):c.1636C>T (p.Arg546Cys)
NM_004793.4(LONP1):c.165G>T (p.Trp55Cys)
NM_004793.4(LONP1):c.1700G>A (p.Gly567Asp) rs2145585477
NM_004793.4(LONP1):c.1707G>A (p.Met569Ile)
NM_004793.4(LONP1):c.1722C>G (p.Ile574Met)
NM_004793.4(LONP1):c.1736A>C (p.Lys579Thr)
NM_004793.4(LONP1):c.1737G>T (p.Lys579Asn)
NM_004793.4(LONP1):c.1742A>G (p.Lys581Arg)
NM_004793.4(LONP1):c.1744A>C (p.Thr582Pro) rs747561131
NM_004793.4(LONP1):c.1760T>C (p.Ile587Thr)
NM_004793.4(LONP1):c.176C>T (p.Pro59Leu)
NM_004793.4(LONP1):c.1773+3G>A
NM_004793.4(LONP1):c.1773+4C>G
NM_004793.4(LONP1):c.1773+4C>T rs370718882
NM_004793.4(LONP1):c.1774-3C>T
NM_004793.4(LONP1):c.1775T>A (p.Val592Glu)
NM_004793.4(LONP1):c.1793G>A (p.Gly598Asp)
NM_004793.4(LONP1):c.1808C>T (p.Pro603Leu)
NM_004793.4(LONP1):c.1811C>T (p.Ser604Leu)
NM_004793.4(LONP1):c.1814C>T (p.Ser605Leu)
NM_004793.4(LONP1):c.1823T>C (p.Leu608Pro)
NM_004793.4(LONP1):c.1827G>C (p.Glu609Asp)
NM_004793.4(LONP1):c.1835A>C (p.Asp612Ala)
NM_004793.4(LONP1):c.1847A>C (p.Asn616Thr) rs200839886
NM_004793.4(LONP1):c.1847A>G (p.Asn616Ser)
NM_004793.4(LONP1):c.1850C>T (p.Ala617Val)
NM_004793.4(LONP1):c.1852A>C (p.Asn618His) rs2145584099
NM_004793.4(LONP1):c.1854C>A (p.Asn618Lys)
NM_004793.4(LONP1):c.1863C>G (p.Asp621Glu)
NM_004793.4(LONP1):c.1864C>T (p.His622Tyr)
NM_004793.4(LONP1):c.1879C>T (p.Pro627Ser)
NM_004793.4(LONP1):c.1891T>G (p.Ser631Ala)
NM_004793.4(LONP1):c.1896+3G>C rs371793819
NM_004793.4(LONP1):c.1896+3G>T rs371793819
NM_004793.4(LONP1):c.1909T>G (p.Cys637Gly)
NM_004793.4(LONP1):c.1924A>G (p.Thr642Ala) rs766977148
NM_004793.4(LONP1):c.1928A>C (p.Asp643Ala)
NM_004793.4(LONP1):c.1930A>G (p.Thr644Ala)
NM_004793.4(LONP1):c.1943C>T (p.Pro648Leu)
NM_004793.4(LONP1):c.1967T>C (p.Ile656Thr)
NM_004793.4(LONP1):c.1972G>A (p.Val658Met)
NM_004793.4(LONP1):c.1990C>G (p.Gln664Glu)
NM_004793.4(LONP1):c.2013+3A>G
NM_004793.4(LONP1):c.2015G>A (p.Arg672His)
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser) rs879255247
NM_004793.4(LONP1):c.2033C>G (p.Ala678Gly)
NM_004793.4(LONP1):c.2038G>A (p.Ala680Thr)
NM_004793.4(LONP1):c.203T>G (p.Phe68Cys)
NM_004793.4(LONP1):c.2041C>G (p.Leu681Val)
NM_004793.4(LONP1):c.2062A>G (p.Lys688Glu)
NM_004793.4(LONP1):c.2069A>T (p.Lys690Met)
NM_004793.4(LONP1):c.2074T>A (p.Ser692Thr)
NM_004793.4(LONP1):c.2078C>T (p.Ser693Leu)
NM_004793.4(LONP1):c.2083G>A (p.Val695Met) rs2054897250
NM_004793.4(LONP1):c.2083G>C (p.Val695Leu)
NM_004793.4(LONP1):c.2089_2094del (p.Thr697_Leu698del)
NM_004793.4(LONP1):c.2140A>C (p.Lys714Gln)
NM_004793.4(LONP1):c.2154+3G>A
NM_004793.4(LONP1):c.2155G>C (p.Val719Leu) rs750942603
NM_004793.4(LONP1):c.2155G>T (p.Val719Leu) rs750942603
NM_004793.4(LONP1):c.2161C>G (p.Arg721Gly) rs147588238
NM_004793.4(LONP1):c.2161C>T (p.Arg721Trp)
NM_004793.4(LONP1):c.2168C>T (p.Ser723Leu)
NM_004793.4(LONP1):c.2201C>T (p.Ser734Phe)
NM_004793.4(LONP1):c.2223C>A (p.Asn741Lys)
NM_004793.4(LONP1):c.2236G>A (p.Val746Met)
NM_004793.4(LONP1):c.2248G>A (p.Val750Met) rs374091667
NM_004793.4(LONP1):c.2263C>G (p.Arg755Gly) rs200716943
NM_004793.4(LONP1):c.2266A>C (p.Met756Leu)
NM_004793.4(LONP1):c.2266A>G (p.Met756Val)
NM_004793.4(LONP1):c.2267T>C (p.Met756Thr)
NM_004793.4(LONP1):c.2273A>C (p.Asp758Ala)
NM_004793.4(LONP1):c.2275G>T (p.Val759Leu)
NM_004793.4(LONP1):c.22G>C (p.Val8Leu)
NM_004793.4(LONP1):c.2314G>T (p.Ala772Ser)
NM_004793.4(LONP1):c.2315C>T (p.Ala772Val) rs2145578773
NM_004793.4(LONP1):c.2320+6C>T
NM_004793.4(LONP1):c.2323G>A (p.Gly775Ser)
NM_004793.4(LONP1):c.2330C>T (p.Thr777Met)
NM_004793.4(LONP1):c.2345C>T (p.Thr782Ile)
NM_004793.4(LONP1):c.2356C>T (p.Arg786Trp)
NM_004793.4(LONP1):c.2375_2392del (p.Ala792_Asp797del) rs2054873294
NM_004793.4(LONP1):c.2378A>G (p.Lys793Arg) rs762154436
NM_004793.4(LONP1):c.2378A>T (p.Lys793Met) rs762154436
NM_004793.4(LONP1):c.237C>G (p.Phe79Leu)
NM_004793.4(LONP1):c.241G>C (p.Gly81Arg)
NM_004793.4(LONP1):c.2422G>T (p.Glu808Ter) rs1568310102
NM_004793.4(LONP1):c.2431_2433del (p.Lys811del)
NM_004793.4(LONP1):c.2443C>G (p.Arg815Gly)
NM_004793.4(LONP1):c.2465G>C (p.Arg822Thr)
NM_004793.4(LONP1):c.2467G>A (p.Ala823Thr)
NM_004793.4(LONP1):c.2484C>G (p.His828Gln)
NM_004793.4(LONP1):c.2486C>T (p.Ala829Val)
NM_004793.4(LONP1):c.2488C>T (p.Pro830Ser)
NM_004793.4(LONP1):c.2491G>C (p.Ala831Pro)
NM_004793.4(LONP1):c.2549C>G (p.Pro850Arg)
NM_004793.4(LONP1):c.2557G>A (p.Gly853Ser)
NM_004793.4(LONP1):c.2560C>T (p.Pro854Ser)
NM_004793.4(LONP1):c.2581G>A (p.Val861Ile)
NM_004793.4(LONP1):c.259G>C (p.Glu87Gln)
NM_004793.4(LONP1):c.2614C>T (p.Pro872Ser) rs1271644039
NM_004793.4(LONP1):c.2621G>A (p.Arg874Gln)
NM_004793.4(LONP1):c.2627A>G (p.Asn876Ser)
NM_004793.4(LONP1):c.2642G>C (p.Gly881Ala)
NM_004793.4(LONP1):c.2671C>T (p.Pro891Ser)
NM_004793.4(LONP1):c.2674G>A (p.Val892Ile)
NM_004793.4(LONP1):c.2703G>A (p.Ala901=)
NM_004793.4(LONP1):c.2704-11T>A
NM_004793.4(LONP1):c.2704-2A>G
NM_004793.4(LONP1):c.2704-31_2706del rs2054838057
NM_004793.4(LONP1):c.2704-3C>T
NM_004793.4(LONP1):c.2704G>A (p.Ala902Thr) rs1294135188
NM_004793.4(LONP1):c.2717G>A (p.Gly906Glu)
NM_004793.4(LONP1):c.271G>A (p.Glu91Lys)
NM_004793.4(LONP1):c.2726G>A (p.Cys909Tyr) rs1436072051
NM_004793.4(LONP1):c.2728A>G (p.Ile910Val)
NM_004793.4(LONP1):c.2741C>A (p.Ala914Asp)
NM_004793.4(LONP1):c.2743G>C (p.Glu915Gln)
NM_004793.4(LONP1):c.2749AAG[1] (p.Lys918del)
NM_004793.4(LONP1):c.2753A>C (p.Lys918Thr)
NM_004793.4(LONP1):c.275_295del (p.Glu92_Gly98del)
NM_004793.4(LONP1):c.2761T>C (p.Tyr921His)
NM_004793.4(LONP1):c.2762A>G (p.Tyr921Cys)
NM_004793.4(LONP1):c.2764G>A (p.Asp922Asn)
NM_004793.4(LONP1):c.2786A>G (p.Glu929Gly)
NM_004793.4(LONP1):c.2809G>C (p.Glu937Gln)
NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)
NM_004793.4(LONP1):c.2816A>G (p.Tyr939Cys)
NM_004793.4(LONP1):c.2822A>G (p.Glu941Gly)
NM_004793.4(LONP1):c.282_290del (p.94AGG[1]) rs762808010
NM_004793.4(LONP1):c.2834T>C (p.Ile945Thr)
NM_004793.4(LONP1):c.2835C>G (p.Ile945Met)
NM_004793.4(LONP1):c.2843C>G (p.Pro948Arg) rs781191991
NM_004793.4(LONP1):c.2843C>T (p.Pro948Leu)
NM_004793.4(LONP1):c.2847C>G (p.Asp949Glu) rs200774149
NM_004793.4(LONP1):c.2848G>A (p.Glu950Lys)
NM_004793.4(LONP1):c.2860G>T (p.Ala954Ser)
NM_004793.4(LONP1):c.2869G>A (p.Val957Met)
NM_004793.4(LONP1):c.28C>G (p.Leu10Val)
NM_004793.4(LONP1):c.389C>G (p.Thr130Ser)
NM_004793.4(LONP1):c.400G>C (p.Val134Leu)
NM_004793.4(LONP1):c.40G>A (p.Ala14Thr)
NM_004793.4(LONP1):c.44G>C (p.Arg15Pro)
NM_004793.4(LONP1):c.472C>A (p.Arg158Ser) rs370084099
NM_004793.4(LONP1):c.472C>G (p.Arg158Gly)
NM_004793.4(LONP1):c.48C>G (p.Cys16Trp)
NM_004793.4(LONP1):c.514G>A (p.Asp172Asn)
NM_004793.4(LONP1):c.518+4A>T
NM_004793.4(LONP1):c.521A>G (p.Asn174Ser)
NM_004793.4(LONP1):c.529G>A (p.Asp177Asn) rs761871235
NM_004793.4(LONP1):c.52G>A (p.Val18Met)
NM_004793.4(LONP1):c.532G>A (p.Val178Met)
NM_004793.4(LONP1):c.53T>G (p.Val18Gly)
NM_004793.4(LONP1):c.569C>T (p.Thr190Met)
NM_004793.4(LONP1):c.56T>C (p.Leu19Pro) rs1383459415
NM_004793.4(LONP1):c.584A>G (p.His195Arg)
NM_004793.4(LONP1):c.5C>T (p.Ala2Val)
NM_004793.4(LONP1):c.601G>A (p.Gly201Arg)
NM_004793.4(LONP1):c.614G>T (p.Arg205Leu)
NM_004793.4(LONP1):c.622G>A (p.Val208Ile)
NM_004793.4(LONP1):c.635G>A (p.Arg212Lys)
NM_004793.4(LONP1):c.639-2dup
NM_004793.4(LONP1):c.646A>C (p.Ile216Leu) rs2145624245
NM_004793.4(LONP1):c.64_90del (p.Pro22_Arg30del) rs1355376280
NM_004793.4(LONP1):c.665_685dup (p.Glu228_Ala229insValGluProGluGluProGlu)
NM_004793.4(LONP1):c.673G>A (p.Glu225Lys)
NM_004793.4(LONP1):c.676G>A (p.Glu226Lys)
NM_004793.4(LONP1):c.679_684dup (p.Glu228_Ala229insProGlu)
NM_004793.4(LONP1):c.684G>C (p.Glu228Asp) rs1198967049
NM_004793.4(LONP1):c.69_70delinsAG (p.Met23_Leu24delinsIleVal) rs1568332645
NM_004793.4(LONP1):c.707G>A (p.Arg236His)
NM_004793.4(LONP1):c.725G>T (p.Gly242Val)
NM_004793.4(LONP1):c.737C>T (p.Ala246Val)
NM_004793.4(LONP1):c.754G>T (p.Ala252Ser)
NM_004793.4(LONP1):c.757A>G (p.Arg253Gly)
NM_004793.4(LONP1):c.762C>G (p.His254Gln) rs780991889
NM_004793.4(LONP1):c.76G>C (p.Ala26Pro) rs2145645967
NM_004793.4(LONP1):c.775G>T (p.Ala259Ser)
NM_004793.4(LONP1):c.793G>A (p.Glu265Lys) rs2055242360
NM_004793.4(LONP1):c.79G>C (p.Ala27Pro) rs2055412624
NM_004793.4(LONP1):c.82G>C (p.Gly28Arg)
NM_004793.4(LONP1):c.852G>C (p.Gln284His)
NM_004793.4(LONP1):c.857C>T (p.Thr286Met)
NM_004793.4(LONP1):c.85G>A (p.Gly29Arg)
NM_004793.4(LONP1):c.861G>C (p.Glu287Asp)
NM_004793.4(LONP1):c.862G>A (p.Glu288Lys)
NM_004793.4(LONP1):c.86G>A (p.Gly29Glu) rs1289053223
NM_004793.4(LONP1):c.875T>C (p.Leu292Pro)
NM_004793.4(LONP1):c.888C>G (p.Ile296Met) rs759362983
NM_004793.4(LONP1):c.898A>C (p.Ile300Leu)
NM_004793.4(LONP1):c.902G>A (p.Arg301Gln)
NM_004793.4(LONP1):c.932+2T>C
NM_004793.4(LONP1):c.94C>T (p.Pro32Ser)
NM_004793.4(LONP1):c.968G>A (p.Arg323Gln)
NM_004793.4(LONP1):c.976G>A (p.Asp326Asn)
NM_004793.4(LONP1):c.979A>C (p.Asn327His)
NM_004793.4(LONP1):c.981C>A (p.Asn327Lys)
NM_004793.4(LONP1):c.997G>A (p.Asp333Asn) rs1002299117

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