ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu) rs575275088 0.00005
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser) rs754018322 0.00004
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu) rs768524403 0.00004
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met) rs148937530 0.00004
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser) rs756538071 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.1341C>T (p.Gly447=) rs750241183 0.00002
NM_001003800.2(BICD2):c.1418G>A (p.Arg473His) rs766539334 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=) rs750614733 0.00002
NM_001003800.2(BICD2):c.346C>T (p.Arg116Trp) rs767127458 0.00002
NM_001003800.2(BICD2):c.365A>G (p.Gln122Arg) rs1477596230 0.00002
NM_001003800.2(BICD2):c.372G>T (p.Glu124Asp) rs1490576971 0.00002
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys) rs754493702 0.00002
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001003800.2(BICD2):c.1024A>G (p.Ile342Val) rs777795062 0.00001
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys) rs766132361 0.00001
NM_001003800.2(BICD2):c.133G>C (p.Glu45Gln) rs776420993 0.00001
NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln) rs398123032 0.00001
NM_001003800.2(BICD2):c.1542C>T (p.Gly514=) rs1240963153 0.00001
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) rs940304129 0.00001
NM_001003800.2(BICD2):c.1590C>A (p.Phe530Leu) rs1472200920 0.00001
NM_001003800.2(BICD2):c.165C>A (p.His55Gln) rs150915279 0.00001
NM_001003800.2(BICD2):c.1675G>A (p.Glu559Lys) rs759941912 0.00001
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser) rs1302642659 0.00001
NM_001003800.2(BICD2):c.1777C>T (p.Pro593Ser) rs1375372433 0.00001
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln) rs1412401979 0.00001
NM_001003800.2(BICD2):c.1804A>G (p.Thr602Ala) rs941771966 0.00001
NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) rs935505713 0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_001003800.2(BICD2):c.1940G>A (p.Arg647His) rs774220760 0.00001
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu) rs748802657 0.00001
NM_001003800.2(BICD2):c.2008G>A (p.Glu670Lys) rs372899268 0.00001
NM_001003800.2(BICD2):c.203A>G (p.Tyr68Cys) rs141519259 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001003800.2(BICD2):c.2218G>A (p.Ala740Thr) rs1210812038 0.00001
NM_001003800.2(BICD2):c.2258+6C>T rs566572599 0.00001
NM_001003800.2(BICD2):c.2259G>A (p.Arg753=) rs921619761 0.00001
NM_001003800.2(BICD2):c.2272A>G (p.Ile758Val) rs766894803 0.00001
NM_001003800.2(BICD2):c.2306C>T (p.Ala769Val) rs773121830 0.00001
NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys) rs144944522 0.00001
NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln) rs1473987839 0.00001
NM_001003800.2(BICD2):c.2419C>T (p.Arg807Trp) rs778940849 0.00001
NM_001003800.2(BICD2):c.2428C>T (p.Arg810Cys) rs778218322 0.00001
NM_001003800.2(BICD2):c.2468G>A (p.Ser823Asn) rs1853279588 0.00001
NM_001003800.2(BICD2):c.2542G>A (p.Glu848Lys) rs766447651 0.00001
NM_001003800.2(BICD2):c.286G>A (p.Gly96Arg) rs749242497 0.00001
NM_001003800.2(BICD2):c.295C>T (p.Arg99Trp) rs751756270 0.00001
NM_001003800.2(BICD2):c.389A>G (p.Asn130Ser) rs142827536 0.00001
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met) rs758588310 0.00001
NM_001003800.2(BICD2):c.454-4A>G rs1379719399 0.00001
NM_001003800.2(BICD2):c.527G>T (p.Arg176Leu) rs1207286970 0.00001
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys) rs371897802 0.00001
NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys) rs770331418 0.00001
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met) rs753891194 0.00001
NM_001003800.2(BICD2):c.986C>A (p.Ser329Tyr) rs761526161 0.00001
NC_000009.11:g.(?_94794747)_(95527026_?)del
NC_000009.11:g.(?_95477699)_(95479322_?)del
NC_000009.11:g.(?_95526777)_(95527036_?)del
NM_001003800.2(BICD2):c.1006C>T (p.Leu336=) rs1853434245
NM_001003800.2(BICD2):c.1027T>G (p.Ser343Ala)
NM_001003800.2(BICD2):c.1053G>T (p.Gln351His) rs2131502057
NM_001003800.2(BICD2):c.1058T>C (p.Met353Thr)
NM_001003800.2(BICD2):c.1062+5G>A
NM_001003800.2(BICD2):c.1062G>T (p.Gln354His)
NM_001003800.2(BICD2):c.1063-7T>A rs1853416488
NM_001003800.2(BICD2):c.1063A>G (p.Met355Val) rs767226677
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) rs767226677
NM_001003800.2(BICD2):c.1070G>A (p.Arg357Gln)
NM_001003800.2(BICD2):c.1094C>A (p.Thr365Lys)
NM_001003800.2(BICD2):c.10_12dup (p.Pro4_Ser5insPro)
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
NM_001003800.2(BICD2):c.1110G>C (p.Gln370His)
NM_001003800.2(BICD2):c.1123C>G (p.His375Asp)
NM_001003800.2(BICD2):c.1132G>T (p.Gly378Cys)
NM_001003800.2(BICD2):c.1133G>C (p.Gly378Ala) rs1440404997
NM_001003800.2(BICD2):c.1153G>A (p.Glu385Lys)
NM_001003800.2(BICD2):c.1168C>T (p.Leu390Phe) rs192669216
NM_001003800.2(BICD2):c.1174G>A (p.Glu392Lys)
NM_001003800.2(BICD2):c.1185T>A (p.Ser395Arg)
NM_001003800.2(BICD2):c.1189C>G (p.Leu397Val) rs1853411761
NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)
NM_001003800.2(BICD2):c.11C>G (p.Pro4Arg)
NM_001003800.2(BICD2):c.1204G>A (p.Ala402Thr)
NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
NM_001003800.2(BICD2):c.1257T>G (p.His419Gln) rs774663157
NM_001003800.2(BICD2):c.1262A>T (p.Asp421Val)
NM_001003800.2(BICD2):c.1265G>A (p.Gly422Glu) rs2131501032
NM_001003800.2(BICD2):c.1273T>C (p.Tyr425His) rs1853407945
NM_001003800.2(BICD2):c.1276G>A (p.Glu426Lys) rs184465241
NM_001003800.2(BICD2):c.1291G>A (p.Gly431Arg) rs780600581
NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)
NM_001003800.2(BICD2):c.1312A>C (p.Lys438Gln) rs1587669231
NM_001003800.2(BICD2):c.1335G>A (p.Glu445=) rs1853406194
NM_001003800.2(BICD2):c.1342G>A (p.Glu448Lys)
NM_001003800.2(BICD2):c.1369C>A (p.Arg457Ser) rs376220375
NM_001003800.2(BICD2):c.1372A>G (p.Ser458Gly) rs1853404911
NM_001003800.2(BICD2):c.1375A>G (p.Thr459Ala)
NM_001003800.2(BICD2):c.1397A>G (p.Gln466Arg)
NM_001003800.2(BICD2):c.1400A>G (p.His467Arg) rs1564060261
NM_001003800.2(BICD2):c.1402G>A (p.Ala468Thr)
NM_001003800.2(BICD2):c.1405G>A (p.Glu469Lys)
NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser) rs1853403012
NM_001003800.2(BICD2):c.1429G>C (p.Glu477Gln) rs372840233
NM_001003800.2(BICD2):c.1451A>C (p.Lys484Thr) rs2131500709
NM_001003800.2(BICD2):c.1463T>C (p.Leu488Pro) rs1587668983
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) rs1587668960
NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) rs1457844438
NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.1510_1512del (p.Lys504del) rs1554705506
NM_001003800.2(BICD2):c.1517T>C (p.Leu506Pro)
NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)
NM_001003800.2(BICD2):c.1541G>T (p.Gly514Val)
NM_001003800.2(BICD2):c.1561A>G (p.Ser521Gly) rs1286725301
NM_001003800.2(BICD2):c.1564G>A (p.Val522Met) rs1853397128
NM_001003800.2(BICD2):c.1582G>A (p.Val528Met) rs908773556
NM_001003800.2(BICD2):c.1582G>T (p.Val528Leu) rs908773556
NM_001003800.2(BICD2):c.1592G>T (p.Ser531Ile) rs1287163670
NM_001003800.2(BICD2):c.1607A>G (p.Asn536Ser)
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp) rs1564060049
NM_001003800.2(BICD2):c.1627A>T (p.Met543Leu)
NM_001003800.2(BICD2):c.1631G>A (p.Cys544Tyr) rs1853395351
NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser) rs1370503586
NM_001003800.2(BICD2):c.163C>G (p.His55Asp) rs1854442288
NM_001003800.2(BICD2):c.1652G>A (p.Arg551His)
NM_001003800.2(BICD2):c.1655T>C (p.Val552Ala)
NM_001003800.2(BICD2):c.1672C>T (p.Arg558Cys) rs1351684855
NM_001003800.2(BICD2):c.1673G>T (p.Arg558Leu)
NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)
NM_001003800.2(BICD2):c.1679G>A (p.Gly560Asp)
NM_001003800.2(BICD2):c.1688G>A (p.Gly563Glu)
NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) rs751269137
NM_001003800.2(BICD2):c.16GAG[5] (p.Glu9_Tyr10insGlu)
NM_001003800.2(BICD2):c.1703G>C (p.Ser568Thr)
NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)
NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup) rs998616675
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) rs1333312158
NM_001003800.2(BICD2):c.1718C>G (p.Thr573Ser)
NM_001003800.2(BICD2):c.1724C>A (p.Pro575His)
NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)
NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)
NM_001003800.2(BICD2):c.1732del (p.Arg578fs) rs1554705455
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp)
NM_001003800.2(BICD2):c.1766G>A (p.Gly589Glu)
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
NM_001003800.2(BICD2):c.1787G>T (p.Gly596Val) rs1377173037
NM_001003800.2(BICD2):c.1798G>T (p.Gly600Cys)
NM_001003800.2(BICD2):c.1801G>T (p.Gly601Trp) rs2131500027
NM_001003800.2(BICD2):c.1817G>A (p.Ser606Asn) rs897077465
NM_001003800.2(BICD2):c.181T>C (p.Phe61Leu)
NM_001003800.2(BICD2):c.1849C>G (p.Leu617Val) rs990859311
NM_001003800.2(BICD2):c.1858C>A (p.Pro620Thr)
NM_001003800.2(BICD2):c.1862G>A (p.Arg621His)
NM_001003800.2(BICD2):c.1865G>A (p.Arg622Gln)
NM_001003800.2(BICD2):c.1883A>G (p.Tyr628Cys) rs1853383567
NM_001003800.2(BICD2):c.1903C>G (p.Arg635Gly)
NM_001003800.2(BICD2):c.1904G>A (p.Arg635His)
NM_001003800.2(BICD2):c.1914C>G (p.Ile638Met)
NM_001003800.2(BICD2):c.1922T>C (p.Leu641Pro) rs1554705383
NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)
NM_001003800.2(BICD2):c.1931C>A (p.Ala644Asp) rs1564059605
NM_001003800.2(BICD2):c.1957C>T (p.Arg653Cys)
NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)
NM_001003800.2(BICD2):c.1964G>T (p.Arg655Leu)
NM_001003800.2(BICD2):c.1978G>A (p.Glu660Lys) rs1853379869
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(BICD2):c.1997A>C (p.Asp666Ala) rs1587668190
NM_001003800.2(BICD2):c.1A>C (p.Met1Leu) rs2131542823
NM_001003800.2(BICD2):c.2017A>G (p.Met673Val)
NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)
NM_001003800.2(BICD2):c.2036T>G (p.Leu679Arg) rs2131499599
NM_001003800.2(BICD2):c.2057A>T (p.Lys686Met) rs1587668129
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg) rs1554705339
NM_001003800.2(BICD2):c.2086G>C (p.Val696Leu)
NM_001003800.2(BICD2):c.2106+6G>C rs201184890
NM_001003800.2(BICD2):c.2107-3C>T
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
NM_001003800.2(BICD2):c.212T>C (p.Ile71Thr) rs2131542548
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
NM_001003800.2(BICD2):c.2158G>A (p.Ala720Thr)
NM_001003800.2(BICD2):c.2161A>G (p.Met721Val)
NM_001003800.2(BICD2):c.2170G>A (p.Glu724Lys)
NM_001003800.2(BICD2):c.2173A>T (p.Thr725Ser) rs2131498763
NM_001003800.2(BICD2):c.2181G>T (p.Met727Ile)
NM_001003800.2(BICD2):c.2189G>T (p.Arg730Leu) rs943974428
NM_001003800.2(BICD2):c.2209A>G (p.Lys737Glu) rs2131498684
NM_001003800.2(BICD2):c.2209_2211del (p.Lys737del) rs2131498680
NM_001003800.2(BICD2):c.2219C>T (p.Ala740Val)
NM_001003800.2(BICD2):c.2224_2226dup (p.Thr742dup) rs1554705227
NM_001003800.2(BICD2):c.2227_2228delinsAC (p.Phe743Thr) rs1853349102
NM_001003800.2(BICD2):c.2234C>T (p.Ser745Leu)
NM_001003800.2(BICD2):c.224T>C (p.Met75Thr)
NM_001003800.2(BICD2):c.2258+757_2305del
NM_001003800.2(BICD2):c.2259-3C>T
NM_001003800.2(BICD2):c.225G>T (p.Met75Ile) rs1854440556
NM_001003800.2(BICD2):c.2285A>T (p.Asp762Val) rs1853288605
NM_001003800.2(BICD2):c.2294A>G (p.Gln765Arg) rs1853288308
NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln) rs1216459221
NM_001003800.2(BICD2):c.2314G>A (p.Glu772Lys)
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr) rs2131496327
NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala) rs1587666004
NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) rs756421767
NM_001003800.2(BICD2):c.238G>T (p.Glu80Ter)
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
NM_001003800.2(BICD2):c.241G>C (p.Ala81Pro)
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln) rs1564057942
NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys) rs143189118
NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)
NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)
NM_001003800.2(BICD2):c.2470G>C (p.Val824Leu) rs774445661
NM_001003800.2(BICD2):c.247G>A (p.Gly83Arg) rs1587675774
NM_001003800.2(BICD2):c.2485G>A (p.Ala829Thr) rs1853278571
NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)
NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)
NM_001003800.2(BICD2):c.253G>A (p.Ala85Thr)
NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln) rs1412613776
NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)
NM_001003800.2(BICD2):c.2563G>A (p.Asp855Asn)
NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)
NM_001003800.2(BICD2):c.27G>C (p.Glu9Asp) rs2131542772
NM_001003800.2(BICD2):c.301G>A (p.Glu101Lys) rs1554706635
NM_001003800.2(BICD2):c.305G>T (p.Ser102Ile) rs1853629682
NM_001003800.2(BICD2):c.334C>G (p.Gln112Glu)
NM_001003800.2(BICD2):c.346C>G (p.Arg116Gly)
NM_001003800.2(BICD2):c.35_52dup (p.Ala17_Gln18insArgLeuValMetGluAla)
NM_001003800.2(BICD2):c.368_369delinsTT (p.Thr123Ile)
NM_001003800.2(BICD2):c.380A>G (p.Gln127Arg)
NM_001003800.2(BICD2):c.386G>A (p.Arg129His) rs780485203
NM_001003800.2(BICD2):c.38T>G (p.Leu13Arg) rs1340902320
NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)
NM_001003800.2(BICD2):c.421C>T (p.Arg141Cys)
NM_001003800.2(BICD2):c.422G>A (p.Arg141His)
NM_001003800.2(BICD2):c.422G>T (p.Arg141Leu)
NM_001003800.2(BICD2):c.454A>T (p.Ile152Phe) rs1853491424
NM_001003800.2(BICD2):c.458A>T (p.Asn153Ile) rs2131504307
NM_001003800.2(BICD2):c.464A>G (p.Asn155Ser) rs1853491158
NM_001003800.2(BICD2):c.479G>A (p.Arg160His)
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)
NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)
NM_001003800.2(BICD2):c.527G>A (p.Arg176His) rs1207286970
NM_001003800.2(BICD2):c.545C>T (p.Ser182Leu)
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003800.2(BICD2):c.56C>T (p.Pro19Leu)
NM_001003800.2(BICD2):c.578A>C (p.Lys193Thr)
NM_001003800.2(BICD2):c.587C>T (p.Ser196Phe) rs1853487156
NM_001003800.2(BICD2):c.58G>C (p.Glu20Gln) rs780000539
NM_001003800.2(BICD2):c.598C>G (p.Gln200Glu)
NM_001003800.2(BICD2):c.59A>G (p.Glu20Gly)
NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)
NM_001003800.2(BICD2):c.623T>C (p.Leu208Pro) rs1853448827
NM_001003800.2(BICD2):c.64C>G (p.Leu22Val) rs758212511
NM_001003800.2(BICD2):c.656C>G (p.Thr219Ser) rs370390769
NM_001003800.2(BICD2):c.681G>T (p.Glu227Asp)
NM_001003800.2(BICD2):c.684T>A (p.Asp228Glu)
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu) rs1587670538
NM_001003800.2(BICD2):c.705C>G (p.Ile235Met) rs1183367895
NM_001003800.2(BICD2):c.710A>G (p.Glu237Gly) rs2131502641
NM_001003800.2(BICD2):c.725A>G (p.Glu242Gly) rs369298186
NM_001003800.2(BICD2):c.735G>C (p.Glu245Asp) rs2131502587
NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)
NM_001003800.2(BICD2):c.766del (p.Ser256fs)
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001003800.2(BICD2):c.793A>C (p.Met265Leu) rs779331320
NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe) rs375710311
NM_001003800.2(BICD2):c.812_814del (p.Phe271del)
NM_001003800.2(BICD2):c.82C>T (p.Arg28Trp)
NM_001003800.2(BICD2):c.833T>C (p.Val278Ala) rs1853441867
NM_001003800.2(BICD2):c.85C>G (p.Leu29Val)
NM_001003800.2(BICD2):c.862G>A (p.Asp288Asn)
NM_001003800.2(BICD2):c.864T>A (p.Asp288Glu)
NM_001003800.2(BICD2):c.868G>A (p.Ala290Thr)
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)
NM_001003800.2(BICD2):c.881A>T (p.Asn294Ile)
NM_001003800.2(BICD2):c.89C>G (p.Ser30Cys) rs1271773744
NM_001003800.2(BICD2):c.8C>T (p.Ala3Val)
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser) rs2131502289
NM_001003800.2(BICD2):c.911A>G (p.Glu304Gly)
NM_001003800.2(BICD2):c.913C>T (p.His305Tyr)
NM_001003800.2(BICD2):c.914A>G (p.His305Arg) rs1480204082
NM_001003800.2(BICD2):c.91C>T (p.His31Tyr) rs1554709923
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln) rs1564076641
NM_001003800.2(BICD2):c.953C>T (p.Ser318Phe)
NM_001003800.2(BICD2):c.961AAG[1] (p.Lys322del)
NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro)
NM_001003800.2(BICD2):c.989C>A (p.Pro330His) rs1564060970
NM_001003800.2(BICD2):c.989C>G (p.Pro330Arg)

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