ClinVar Miner

List of variants reported as likely benign for bone inflammation disease

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 417
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_173842.3(IL1RN):c.*310T>C rs4252027 0.01657
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_173841.2(IL1RN):c.-83G>A rs45526933 0.00580
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_001375808.2(LPIN2):c.*2553G>A rs149332969 0.00440
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_001375808.2(LPIN2):c.*1586G>A rs144299426 0.00382
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.*1147A>G rs139015163 0.00215
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.*2076C>A rs112529707 0.00137
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_001375808.2(LPIN2):c.*1077C>G rs563088438 0.00121
NM_054027.6(ANKH):c.*3336_*3339del rs377752827 0.00118
NM_001375808.2(LPIN2):c.*850G>A rs73375250 0.00106
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_001375808.2(LPIN2):c.*158G>A rs547872442 0.00058
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192 0.00057
NM_001375808.2(LPIN2):c.*151G>A rs571000282 0.00056
NM_001375808.2(LPIN2):c.*2103G>A rs561577089 0.00056
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_054027.6(ANKH):c.*2243C>T rs531980160 0.00045
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.552C>T (p.Gly184=) rs142048129 0.00034
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) rs150312425 0.00026
NM_054027.6(ANKH):c.*695_*698dup rs555469650 0.00026
NM_001375808.2(LPIN2):c.*2390C>T rs555969171 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_054027.6(ANKH):c.*2974G>A rs182073449 0.00021
NM_173842.3(IL1RN):c.117-9C>T rs373136455 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001375808.2(LPIN2):c.1793+18T>C rs533296054 0.00015
NM_173841.2(IL1RN):c.*1156T>C rs140343304 0.00015
NM_001375808.2(LPIN2):c.1620+16del rs759865446 0.00014
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00014
NM_001375808.2(LPIN2):c.1794-14C>T rs377387275 0.00013
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277 0.00011
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_001375808.2(LPIN2):c.1268+13T>C rs371589907 0.00010
NM_001375808.2(LPIN2):c.2327+14A>G rs370048111 0.00010
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) rs371358114 0.00010
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.1821C>T (p.Asp607=) rs548432470 0.00008
NM_001375808.2(LPIN2):c.1887C>T (p.His629=) rs141252313 0.00007
NM_001375808.2(LPIN2):c.2174+10C>T rs201227858 0.00007
NM_001375808.2(LPIN2):c.588A>G (p.Ala196=) rs1020661683 0.00007
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_001375808.2(LPIN2):c.1011C>T (p.Ser337=) rs375422942 0.00006
NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=) rs753669833 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_173842.3(IL1RN):c.116+15A>G rs138621002 0.00006
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_001375808.2(LPIN2):c.1956C>T (p.His652=) rs750220265 0.00005
NM_173842.3(IL1RN):c.447G>A (p.Ala149=) rs111516567 0.00005
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1168+7G>A rs370807298 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001375808.2(LPIN2):c.193-18A>T rs748188345 0.00004
NM_001375808.2(LPIN2):c.2088-10G>A rs374043211 0.00004
NM_173842.3(IL1RN):c.*1039C>T rs559281814 0.00004
NM_173842.3(IL1RN):c.206-11T>C rs372847811 0.00004
NM_173842.3(IL1RN):c.318+17G>A rs373621697 0.00004
NM_173842.3(IL1RN):c.495C>T (p.Gly165=) rs368843442 0.00004
NM_000088.4(COL1A1):c.*1265C>T rs567249120 0.00003
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) rs543890845 0.00003
NM_001375808.2(LPIN2):c.1329C>A (p.Ser443=) rs759651506 0.00003
NM_001375808.2(LPIN2):c.1800C>T (p.Ala600=) rs369572309 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001375808.2(LPIN2):c.2328-20T>C rs763961605 0.00003
NM_001375808.2(LPIN2):c.2547-11C>T rs776045621 0.00003
NM_001375808.2(LPIN2):c.540A>C (p.Thr180=) rs151135579 0.00003
NM_001375808.2(LPIN2):c.838C>A (p.Arg280=) rs759667494 0.00003
NM_173842.3(IL1RN):c.414T>C (p.Ser138=) rs146491054 0.00003
NM_173842.3(IL1RN):c.489C>T (p.Asp163=) rs371472986 0.00003
NM_001375808.2(LPIN2):c.1152G>A (p.Ser384=) rs375168505 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=) rs371484024 0.00002
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) rs201325845 0.00002
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) rs183435741 0.00002
NM_001375808.2(LPIN2):c.2174+18G>A rs748082204 0.00002
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His) rs779519224 0.00002
NM_001375808.2(LPIN2):c.2442+14G>C rs1434250691 0.00002
NM_001375808.2(LPIN2):c.289-12A>G rs375980851 0.00002
NM_001375808.2(LPIN2):c.417C>T (p.His139=) rs752124144 0.00002
NM_001375808.2(LPIN2):c.561C>T (p.Ser187=) rs755780342 0.00002
NM_001375808.2(LPIN2):c.591-19T>G rs765447652 0.00002
NM_001375808.2(LPIN2):c.606T>C (p.Ala202=) rs1157352133 0.00002
NM_001375808.2(LPIN2):c.717G>A (p.Ala239=) rs146368213 0.00002
NM_054027.6(ANKH):c.*1948_*1949del rs527743958 0.00002
NM_173842.3(IL1RN):c.219G>A (p.Val73=) rs767496834 0.00002
NM_173842.3(IL1RN):c.261A>G (p.Gly87=) rs770774243 0.00002
NM_173842.3(IL1RN):c.486T>C (p.Pro162=) rs772299998 0.00002
NM_001375808.2(LPIN2):c.102C>T (p.Ile34=) rs961211983 0.00001
NM_001375808.2(LPIN2):c.1143A>G (p.Lys381=) rs574890650 0.00001
NM_001375808.2(LPIN2):c.1155G>A (p.Pro385=) rs558271134 0.00001
NM_001375808.2(LPIN2):c.1268+7T>C rs1375096557 0.00001
NM_001375808.2(LPIN2):c.1275G>A (p.Ser425=) rs1051720856 0.00001
NM_001375808.2(LPIN2):c.1299C>T (p.Pro433=) rs781673368 0.00001
NM_001375808.2(LPIN2):c.1332A>G (p.Pro444=) rs1297660489 0.00001
NM_001375808.2(LPIN2):c.1368C>T (p.Thr456=) rs748919467 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.1488C>T (p.His496=) rs773652492 0.00001
NM_001375808.2(LPIN2):c.1621-7T>G rs758701848 0.00001
NM_001375808.2(LPIN2):c.1711-9C>G rs774311463 0.00001
NM_001375808.2(LPIN2):c.1746G>A (p.Pro582=) rs756661200 0.00001
NM_001375808.2(LPIN2):c.1782G>A (p.Pro594=) rs763809465 0.00001
NM_001375808.2(LPIN2):c.1785C>T (p.Ala595=) rs775141304 0.00001
NM_001375808.2(LPIN2):c.1854A>G (p.Thr618=) rs753630025 0.00001
NM_001375808.2(LPIN2):c.1860C>T (p.Asp620=) rs760510209 0.00001
NM_001375808.2(LPIN2):c.1938+10G>A rs750261432 0.00001
NM_001375808.2(LPIN2):c.2091G>A (p.Ser697=) rs767788156 0.00001
NM_001375808.2(LPIN2):c.210C>T (p.Asn70=) rs780037453 0.00001
NM_001375808.2(LPIN2):c.2202G>A (p.Ser734=) rs559418917 0.00001
NM_001375808.2(LPIN2):c.2214C>T (p.Ile738=) rs769457477 0.00001
NM_001375808.2(LPIN2):c.2400G>C (p.Pro800=) rs747097533 0.00001
NM_001375808.2(LPIN2):c.2442+13T>C rs749917642 0.00001
NM_001375808.2(LPIN2):c.2443-14A>G rs749926941 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2481T>C (p.Cys827=) rs771390365 0.00001
NM_001375808.2(LPIN2):c.2493C>T (p.Thr831=) rs1167923626 0.00001
NM_001375808.2(LPIN2):c.2502C>A (p.Pro834=) rs748215246 0.00001
NM_001375808.2(LPIN2):c.27G>C (p.Gly9=) rs193085338 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.591-12T>C rs1392566154 0.00001
NM_001375808.2(LPIN2):c.705T>C (p.Tyr235=) rs376775853 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.795G>A (p.Thr265=) rs373300544 0.00001
NM_001375808.2(LPIN2):c.822+8G>A rs1229703486 0.00001
NM_001375808.2(LPIN2):c.825C>T (p.Val275=) rs1296229873 0.00001
NM_001375808.2(LPIN2):c.87G>A (p.Gly29=) rs1346313879 0.00001
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) rs761698657 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_173841.3(IL1RN):c.11-16A>C rs747837384 0.00001
NM_173841.3(IL1RN):c.66C>T (p.Asp22=) rs760885026 0.00001
NM_173841.3(IL1RN):c.73+10T>C rs745408148 0.00001
NM_173842.3(IL1RN):c.108A>G (p.Gln36=) rs144691672 0.00001
NM_173842.3(IL1RN):c.156C>T (p.Asn52=) rs1022748861 0.00001
NM_173842.3(IL1RN):c.186A>G (p.Gly62=) rs545976021 0.00001
NM_173842.3(IL1RN):c.192T>C (p.Asn64=) rs146473306 0.00001
NM_173842.3(IL1RN):c.206-4C>G rs759542463 0.00001
NM_173842.3(IL1RN):c.336C>T (p.Asp112=) rs751937390 0.00001
NM_173842.3(IL1RN):c.342C>T (p.Ser114=) rs368859169 0.00001
NM_173842.3(IL1RN):c.366C>T (p.Arg122=) rs139208403 0.00001
NM_173842.3(IL1RN):c.417C>T (p.Ala139=) rs55640833 0.00001
NM_173842.3(IL1RN):c.426C>T (p.Pro142=) rs761311365 0.00001
NM_173842.3(IL1RN):c.528C>T (p.Asp176=) rs192597507 0.00001
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*88T>A rs1061237
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_001375808.2(LPIN2):c.*1179G>A rs147362027
NM_001375808.2(LPIN2):c.*2197_*2198del rs55834965
NM_001375808.2(LPIN2):c.*2924del rs148191039
NM_001375808.2(LPIN2):c.1017A>G (p.Pro339=) rs2144195604
NM_001375808.2(LPIN2):c.1026G>A (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1026G>T (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1038C>T (p.Leu346=)
NM_001375808.2(LPIN2):c.1062G>A (p.Gln354=)
NM_001375808.2(LPIN2):c.108A>G (p.Val36=)
NM_001375808.2(LPIN2):c.1098C>T (p.Asn366=)
NM_001375808.2(LPIN2):c.1110G>A (p.Ala370=)
NM_001375808.2(LPIN2):c.1116G>A (p.Ala372=) rs773325510
NM_001375808.2(LPIN2):c.1116G>C (p.Ala372=)
NM_001375808.2(LPIN2):c.114G>A (p.Gln38=) rs2143202505
NM_001375808.2(LPIN2):c.1168+10del
NM_001375808.2(LPIN2):c.1168+14T>C
NM_001375808.2(LPIN2):c.1169-20C>G
NM_001375808.2(LPIN2):c.1169-4del
NM_001375808.2(LPIN2):c.1169-7T>G
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1169-8T>C rs2144178133
NM_001375808.2(LPIN2):c.1185C>T (p.Ser395=) rs2077256730
NM_001375808.2(LPIN2):c.1254T>C (p.Leu418=)
NM_001375808.2(LPIN2):c.1268+11C>T
NM_001375808.2(LPIN2):c.1268+16T>C
NM_001375808.2(LPIN2):c.1268+9G>A rs1183619133
NM_001375808.2(LPIN2):c.1269-18C>G
NM_001375808.2(LPIN2):c.126C>T (p.Ser42=) rs2143202348
NM_001375808.2(LPIN2):c.1299C>A (p.Pro433=) rs781673368
NM_001375808.2(LPIN2):c.1314C>G (p.Leu438=)
NM_001375808.2(LPIN2):c.1320C>G (p.Gly440=)
NM_001375808.2(LPIN2):c.1323C>G (p.Ser441=)
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.1410C>G (p.Thr470=) rs35932462
NM_001375808.2(LPIN2):c.1422C>T (p.Cys474=)
NM_001375808.2(LPIN2):c.1457-10T>C rs762492589
NM_001375808.2(LPIN2):c.1457-20ATT[2]
NM_001375808.2(LPIN2):c.1457-21_1457-18del
NM_001375808.2(LPIN2):c.1485T>C (p.Tyr495=)
NM_001375808.2(LPIN2):c.1497A>G (p.Ala499=)
NM_001375808.2(LPIN2):c.1506T>A (p.Pro502=)
NM_001375808.2(LPIN2):c.1524T>C (p.Pro508=) rs2144150762
NM_001375808.2(LPIN2):c.1527C>T (p.Asn509=) rs2144150748
NM_001375808.2(LPIN2):c.1550+11C>G
NM_001375808.2(LPIN2):c.1550+14C>G
NM_001375808.2(LPIN2):c.1550+8C>T
NM_001375808.2(LPIN2):c.1551-5C>G
NM_001375808.2(LPIN2):c.1591T>C (p.Leu531=)
NM_001375808.2(LPIN2):c.1620+8G>A
NM_001375808.2(LPIN2):c.1620+8G>C rs751918963
NM_001375808.2(LPIN2):c.1621-15G>A
NM_001375808.2(LPIN2):c.1621-16G>A
NM_001375808.2(LPIN2):c.1621-5_1621-4insCAC rs2144144869
NM_001375808.2(LPIN2):c.1621-9T>G
NM_001375808.2(LPIN2):c.1710+15G>C
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1710+19A>G
NM_001375808.2(LPIN2):c.1710+7G>A rs1345198380
NM_001375808.2(LPIN2):c.1710+7G>C
NM_001375808.2(LPIN2):c.1710+8A>T
NM_001375808.2(LPIN2):c.1711-15A>C
NM_001375808.2(LPIN2):c.1711-16C>T
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1758C>T (p.Asp586=) rs2144139743
NM_001375808.2(LPIN2):c.1767C>A (p.Ser589=)
NM_001375808.2(LPIN2):c.1793+15C>T
NM_001375808.2(LPIN2):c.1794-11A>T rs1287905667
NM_001375808.2(LPIN2):c.1794-12A>C
NM_001375808.2(LPIN2):c.1794-5A>T rs2144133645
NM_001375808.2(LPIN2):c.1794-9G>A rs587781026
NM_001375808.2(LPIN2):c.1902A>G (p.Ser634=) rs1171969014
NM_001375808.2(LPIN2):c.192+10C>G rs1568574874
NM_001375808.2(LPIN2):c.193-14T>G
NM_001375808.2(LPIN2):c.193-14dup
NM_001375808.2(LPIN2):c.193-9C>A
NM_001375808.2(LPIN2):c.1938+15A>G
NM_001375808.2(LPIN2):c.1938+17_1938+18del
NM_001375808.2(LPIN2):c.1939-15dup
NM_001375808.2(LPIN2):c.1939-19T>G
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.1939-5A>G rs779830291
NM_001375808.2(LPIN2):c.1953C>G (p.Leu651=) rs2144129579
NM_001375808.2(LPIN2):c.1962C>T (p.Gly654=)
NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=)
NM_001375808.2(LPIN2):c.2007C>T (p.Thr669=) rs761000111
NM_001375808.2(LPIN2):c.2013C>T (p.Arg671=)
NM_001375808.2(LPIN2):c.2031C>T (p.Tyr677=) rs2144129211
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) rs749526038
NM_001375808.2(LPIN2):c.2055C>T (p.Ile685=)
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) rs781016213
NM_001375808.2(LPIN2):c.2087+9A>G rs1598522453
NM_001375808.2(LPIN2):c.2088-10dup
NM_001375808.2(LPIN2):c.2088-13A>G
NM_001375808.2(LPIN2):c.2088-8C>A
NM_001375808.2(LPIN2):c.2088-9T>C
NM_001375808.2(LPIN2):c.2098T>C (p.Leu700=)
NM_001375808.2(LPIN2):c.2103A>G (p.Gly701=)
NM_001375808.2(LPIN2):c.2119C>T (p.Leu707=) rs2144126370
NM_001375808.2(LPIN2):c.2174+11T>A rs902479283
NM_001375808.2(LPIN2):c.2174+12C>T
NM_001375808.2(LPIN2):c.2174+14C>T
NM_001375808.2(LPIN2):c.2174+8C>T rs2144126085
NM_001375808.2(LPIN2):c.2175-12G>C
NM_001375808.2(LPIN2):c.2175-14G>T rs374483994
NM_001375808.2(LPIN2):c.2175-7C>T
NM_001375808.2(LPIN2):c.2181C>G (p.Gly727=)
NM_001375808.2(LPIN2):c.2184C>T (p.Tyr728=)
NM_001375808.2(LPIN2):c.2196C>T (p.Tyr732=)
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2217C>T (p.Gly739=)
NM_001375808.2(LPIN2):c.2268A>G (p.Thr756=)
NM_001375808.2(LPIN2):c.2283C>A (p.Gly761=)
NM_001375808.2(LPIN2):c.2287C>T (p.Leu763=) rs745533997
NM_001375808.2(LPIN2):c.2313C>T (p.Phe771=)
NM_001375808.2(LPIN2):c.2316C>A (p.Ser772=) rs145270447
NM_001375808.2(LPIN2):c.2327+9C>A rs536913334
NM_001375808.2(LPIN2):c.2327+9C>T rs536913334
NM_001375808.2(LPIN2):c.2328-15_2328-10del rs770202563
NM_001375808.2(LPIN2):c.2328-6T>A
NM_001375808.2(LPIN2):c.2340A>G (p.Glu780=)
NM_001375808.2(LPIN2):c.2400G>A (p.Pro800=) rs747097533
NM_001375808.2(LPIN2):c.2415C>T (p.Phe805=)
NM_001375808.2(LPIN2):c.2442+12C>T
NM_001375808.2(LPIN2):c.2442+19C>G
NM_001375808.2(LPIN2):c.2442+8T>C rs2144115979
NM_001375808.2(LPIN2):c.2475A>G (p.Pro825=)
NM_001375808.2(LPIN2):c.249C>T (p.Asn83=)
NM_001375808.2(LPIN2):c.2529C>T (p.Thr843=)
NM_001375808.2(LPIN2):c.2546+10T>A rs2144112120
NM_001375808.2(LPIN2):c.2546+13T>C
NM_001375808.2(LPIN2):c.2546+14C>T
NM_001375808.2(LPIN2):c.2546+16G>C
NM_001375808.2(LPIN2):c.2547-15C>T
NM_001375808.2(LPIN2):c.2547-16C>T
NM_001375808.2(LPIN2):c.2547-5_2547-4del
NM_001375808.2(LPIN2):c.2595T>C (p.Ser865=)
NM_001375808.2(LPIN2):c.2598G>A (p.Lys866=)
NM_001375808.2(LPIN2):c.261C>T (p.Phe87=) rs2077581512
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.2640C>T (p.Phe880=) rs754603570
NM_001375808.2(LPIN2):c.2667A>G (p.Glu889=)
NM_001375808.2(LPIN2):c.2682C>T (p.Asp894=)
NM_001375808.2(LPIN2):c.288+10C>T rs766750528
NM_001375808.2(LPIN2):c.288+13G>C rs2143137276
NM_001375808.2(LPIN2):c.288+19C>T
NM_001375808.2(LPIN2):c.289-18T>C
NM_001375808.2(LPIN2):c.289-20C>T
NM_001375808.2(LPIN2):c.289-6C>T
NM_001375808.2(LPIN2):c.289-6_289-4del
NM_001375808.2(LPIN2):c.330T>C (p.Thr110=)
NM_001375808.2(LPIN2):c.375G>T (p.Ser125=) rs752271556
NM_001375808.2(LPIN2):c.393A>G (p.Pro131=)
NM_001375808.2(LPIN2):c.402T>C (p.Ser134=)
NM_001375808.2(LPIN2):c.411C>T (p.Ile137=)
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) rs763550824
NM_001375808.2(LPIN2):c.432G>A (p.Glu144=) rs2143107238
NM_001375808.2(LPIN2):c.435A>G (p.Thr145=) rs867742294
NM_001375808.2(LPIN2):c.510G>A (p.Glu170=)
NM_001375808.2(LPIN2):c.540A>G (p.Thr180=) rs151135579
NM_001375808.2(LPIN2):c.582G>A (p.Gln194=) rs1555677025
NM_001375808.2(LPIN2):c.590+11C>T rs2143104651
NM_001375808.2(LPIN2):c.590+7C>T
NM_001375808.2(LPIN2):c.590+8TC[3] rs769949222
NM_001375808.2(LPIN2):c.590+9C>A rs773442071
NM_001375808.2(LPIN2):c.590+9C>G rs773442071
NM_001375808.2(LPIN2):c.591-11C>T
NM_001375808.2(LPIN2):c.609C>T (p.Ser203=)
NM_001375808.2(LPIN2):c.60G>A (p.Lys20=)
NM_001375808.2(LPIN2):c.675T>C (p.Asp225=) rs2144209692
NM_001375808.2(LPIN2):c.696G>A (p.Glu232=)
NM_001375808.2(LPIN2):c.698+13G>T
NM_001375808.2(LPIN2):c.698+14A>G
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.699-19_699-16del rs760882217
NM_001375808.2(LPIN2):c.702C>T (p.Thr234=) rs2144204821
NM_001375808.2(LPIN2):c.711G>A (p.Gln237=)
NM_001375808.2(LPIN2):c.753T>G (p.Pro251=)
NM_001375808.2(LPIN2):c.807C>T (p.Phe269=)
NM_001375808.2(LPIN2):c.822+18C>T
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.84T>C (p.Ser28=)
NM_001375808.2(LPIN2):c.897G>C (p.Arg299=)
NM_001375808.2(LPIN2):c.99C>A (p.Val33=)
NM_001375808.2(LPIN2):c.99C>T (p.Val33=)
NM_001375808.2(LPIN2):c.9T>C (p.Tyr3=)
NM_054027.6(ANKH):c.*1887dup rs201158874
NM_054027.6(ANKH):c.*416_*419dup rs142033023
NM_054027.6(ANKH):c.*5136del rs577325072
NM_054027.6(ANKH):c.-291CCG[8] rs531421951
NM_173841.3(IL1RN):c.10+11T>C
NM_173841.3(IL1RN):c.10+14A>C
NM_173841.3(IL1RN):c.10+18dup
NM_173841.3(IL1RN):c.11-17C>T
NM_173841.3(IL1RN):c.48A>G (p.Glu16=) rs2104437489
NM_173841.3(IL1RN):c.73+18T>C
NM_173842.3(IL1RN):c.111C>T (p.Ala37=)
NM_173842.3(IL1RN):c.114C>T (p.Phe38=)
NM_173842.3(IL1RN):c.116+10C>A
NM_173842.3(IL1RN):c.116+13C>T
NM_173842.3(IL1RN):c.117-17G>C
NM_173842.3(IL1RN):c.117-18A>C
NM_173842.3(IL1RN):c.141C>G (p.Thr47=) rs2104455713
NM_173842.3(IL1RN):c.159C>T (p.Asn53=)
NM_173842.3(IL1RN):c.205+15G>A
NM_173842.3(IL1RN):c.207A>G (p.Glu69=) rs1274769729
NM_173842.3(IL1RN):c.243G>A (p.Leu81=) rs1457547311
NM_173842.3(IL1RN):c.258T>C (p.His86=)
NM_173842.3(IL1RN):c.274C>T (p.Leu92=)
NM_173842.3(IL1RN):c.300G>A (p.Glu100=) rs776628808
NM_173842.3(IL1RN):c.315G>A (p.Leu105=)
NM_173842.3(IL1RN):c.319-12T>C
NM_173842.3(IL1RN):c.319-16_319-12del rs2104462201
NM_173842.3(IL1RN):c.319-20G>T
NM_173842.3(IL1RN):c.337C>T (p.Leu113=)
NM_173842.3(IL1RN):c.369C>T (p.Phe123=)
NM_173842.3(IL1RN):c.384A>T (p.Ser128=) rs202172114
NM_173842.3(IL1RN):c.396C>G (p.Pro132=)
NM_173842.3(IL1RN):c.426C>G (p.Pro142=) rs761311365
NM_173842.3(IL1RN):c.444A>G (p.Thr148=)
NM_173842.3(IL1RN):c.519C>T (p.Phe173=)
NM_173842.3(IL1RN):c.534G>A (p.Ter178=)
NM_173842.3(IL1RN):c.57C>G (p.Phe19Leu)

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