ClinVar Miner

List of variants in gene BICD2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=) rs138300993 0.00118
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys) rs78319441 0.00113
NM_001003800.2(BICD2):c.813C>T (p.Phe271=) rs150389188 0.00086
NM_001003800.2(BICD2):c.72C>G (p.Ala24=) rs545512590 0.00078
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00066
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=) rs151133287 0.00061
NM_001003800.2(BICD2):c.979C>T (p.Pro327Ser) rs147814238 0.00053
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=) rs368860496 0.00044
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001003800.2(BICD2):c.861C>T (p.Asp287=) rs768173580 0.00036
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=) rs200912578 0.00024
NM_001003800.2(BICD2):c.1069C>T (p.Arg357Trp) rs202119238 0.00022
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) rs200091763 0.00021
NM_001003800.2(BICD2):c.1192C>T (p.Arg398Trp) rs189266003 0.00020
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=) rs77530912 0.00017
NM_001003800.2(BICD2):c.1539C>T (p.Ala513=) rs369575401 0.00016
NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly) rs55658812 0.00014
NM_001003800.2(BICD2):c.1127C>T (p.Thr376Met) rs200325192 0.00013
NM_001003800.2(BICD2):c.1453G>T (p.Val485Phe) rs199519253 0.00013
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001003800.2(BICD2):c.1620C>T (p.His540=) rs375331979 0.00011
NM_001003800.2(BICD2):c.58G>A (p.Glu20Lys) rs780000539 0.00010
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=) rs761796557 0.00009
NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp) rs201335175 0.00009
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His) rs370118099 0.00008
NM_001003800.2(BICD2):c.2245A>G (p.Met749Val) rs145923602 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001003800.2(BICD2):c.957G>A (p.Thr319=) rs201926954 0.00008
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile) rs192669216 0.00006
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=) rs777813587 0.00006
NM_001003800.2(BICD2):c.2217C>T (p.Asp739=) rs142140690 0.00006
NM_001003800.2(BICD2):c.602A>G (p.Asn201Ser) rs201274230 0.00006
NM_001003800.2(BICD2):c.728C>T (p.Ala243Val) rs748997644 0.00006
NM_001003800.2(BICD2):c.1481A>G (p.Gln494Arg) rs142985475 0.00005
NM_001003800.2(BICD2):c.1501C>T (p.Arg501Trp) rs373224610 0.00005
NM_001003800.2(BICD2):c.2076G>A (p.Thr692=) rs747808072 0.00005
NM_001003800.2(BICD2):c.2423G>A (p.Arg808His) rs372322527 0.00005
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu) rs575275088 0.00005
NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala) rs771432118 0.00004
NM_001003800.2(BICD2):c.1446G>A (p.Thr482=) rs370920372 0.00004
NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys) rs771001231 0.00004
NM_001003800.2(BICD2):c.1962G>A (p.Gln654=) rs746391061 0.00004
NM_001003800.2(BICD2):c.2331G>A (p.Thr777=) rs779170531 0.00004
NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu) rs200341779 0.00004
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg) rs756910200 0.00004
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_001003800.2(BICD2):c.1203G>T (p.Gln401His) rs752209653 0.00003
NM_001003800.2(BICD2):c.1707C>T (p.Pro569=) rs552160043 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001003800.2(BICD2):c.1947G>A (p.Thr649=) rs371647882 0.00003
NM_001003800.2(BICD2):c.2106+3G>A rs370179608 0.00003
NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser) rs751158467 0.00003
NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala) rs776472510 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.729G>A (p.Ala243=) rs200066450 0.00003
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=) rs184715042 0.00002
NM_001003800.2(BICD2):c.1417C>T (p.Arg473Cys) rs142203302 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.1964G>A (p.Arg655His) rs143242735 0.00002
NM_001003800.2(BICD2):c.2112C>T (p.Ala704=) rs767670894 0.00002
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=) rs754249319 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.641G>A (p.Arg214His) rs373760993 0.00002
NM_001003800.2(BICD2):c.752G>A (p.Arg251His) rs533199924 0.00002
NM_001003800.2(BICD2):c.991A>G (p.Ser331Gly) rs775155214 0.00002
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys) rs766132361 0.00001
NM_001003800.2(BICD2):c.1195C>T (p.Arg399Cys) rs200542458 0.00001
NM_001003800.2(BICD2):c.1196G>A (p.Arg399His) rs372251238 0.00001
NM_001003800.2(BICD2):c.1211A>G (p.Lys404Arg) rs754667036 0.00001
NM_001003800.2(BICD2):c.1371C>T (p.Arg457=) rs770158042 0.00001
NM_001003800.2(BICD2):c.1445C>T (p.Thr482Met) rs761146388 0.00001
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) rs940304129 0.00001
NM_001003800.2(BICD2):c.1733G>A (p.Arg578His) rs776528966 0.00001
NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) rs935505713 0.00001
NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser) rs768918778 0.00001
NM_001003800.2(BICD2):c.2013G>A (p.Ala671=) rs552216061 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.213C>T (p.Ile71=) rs1057521518 0.00001
NM_001003800.2(BICD2):c.2169C>T (p.Thr723=) rs770335133 0.00001
NM_001003800.2(BICD2):c.2307G>A (p.Ala769=) rs573705109 0.00001
NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln) rs1473987839 0.00001
NM_001003800.2(BICD2):c.286G>A (p.Gly96Arg) rs749242497 0.00001
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met) rs758588310 0.00001
NM_001003800.2(BICD2):c.531G>C (p.Leu177=) rs1057523240 0.00001
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys) rs371897802 0.00001
NM_001003800.2(BICD2):c.918C>T (p.Gly306=) rs540280844 0.00001
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met) rs753891194 0.00001
NM_001003800.2(BICD2):c.1062+5G>A
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
NM_001003800.2(BICD2):c.1120G>A (p.Glu374Lys)
NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)
NM_001003800.2(BICD2):c.1216C>T (p.Arg406Trp)
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser) rs1853403012
NM_001003800.2(BICD2):c.1478G>T (p.Arg493Leu)
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
NM_001003800.2(BICD2):c.1503G>T (p.Arg501=) rs1554705508
NM_001003800.2(BICD2):c.1551G>A (p.Gln517=) rs773975705
NM_001003800.2(BICD2):c.1589T>C (p.Phe530Ser) rs797044920
NM_001003800.2(BICD2):c.1613A>G (p.Tyr538Cys) rs1554705485
NM_001003800.2(BICD2):c.1634A>G (p.Asn545Ser)
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.1674C>T (p.Arg558=) rs35535468
NM_001003800.2(BICD2):c.1712G>T (p.Gly571Val)
NM_001003800.2(BICD2):c.1725C>T (p.Pro575=) rs201343832
NM_001003800.2(BICD2):c.1741C>A (p.Arg581Ser)
NM_001003800.2(BICD2):c.1745C>T (p.Ser582Leu)
NM_001003800.2(BICD2):c.1946C>T (p.Thr649Met)
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001003800.2(BICD2):c.2054C>T (p.Thr685Ile)
NM_001003800.2(BICD2):c.2059C>T (p.Arg687Trp)
NM_001003800.2(BICD2):c.2080C>G (p.Arg694Gly) rs797045412
NM_001003800.2(BICD2):c.20A>C (p.Glu7Ala)
NM_001003800.2(BICD2):c.2179A>T (p.Met727Leu)
NM_001003800.2(BICD2):c.2218G>T (p.Ala740Ser)
NM_001003800.2(BICD2):c.2398G>A (p.Glu800Lys) rs1273239213
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)
NM_001003800.2(BICD2):c.2470G>A (p.Val824Ile)
NM_001003800.2(BICD2):c.2479A>G (p.Thr827Ala)
NM_001003800.2(BICD2):c.2497G>A (p.Asp833Asn)
NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln) rs1412613776
NM_001003800.2(BICD2):c.296G>A (p.Arg99Gln)
NM_001003800.2(BICD2):c.307C>T (p.Leu103=) rs1554706634
NM_001003800.2(BICD2):c.385C>T (p.Arg129Cys)
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
NM_001003800.2(BICD2):c.518G>A (p.Arg173Gln)
NM_001003800.2(BICD2):c.527G>A (p.Arg176His) rs1207286970
NM_001003800.2(BICD2):c.596G>C (p.Arg199Thr)
NM_001003800.2(BICD2):c.700G>A (p.Glu234Lys)
NM_001003800.2(BICD2):c.717G>C (p.Gln239His)
NM_001003800.2(BICD2):c.82C>T (p.Arg28Trp)
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser) rs2131502289
NM_001003800.2(BICD2):c.916G>A (p.Gly306Ser)
NM_001003800.2(BICD2):c.935C>T (p.Pro312Leu)
NM_001003800.2(BICD2):c.971G>T (p.Gly324Val)
NM_001003800.2(BICD2):c.989C>A (p.Pro330His) rs1564060970

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.