ClinVar Miner

List of variants in gene BICD2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.1063-111G>C rs56339669 0.27783
NM_001003800.2(BICD2):c.453+212A>G rs2296080 0.27703
NM_001003800.2(BICD2):c.240+120C>G rs2277164 0.27521
NM_001003800.2(BICD2):c.2259-206C>A rs10992430 0.26148
NM_001003800.2(BICD2):c.*1499C>T rs3739605 0.17864
NM_001003800.2(BICD2):c.1063-130G>A rs12238691 0.17359
NM_001003800.2(BICD2):c.240+102C>T rs116966595 0.07699
NM_001003800.2(BICD2):c.*1789C>A rs10992429 0.06028
NM_001003800.2(BICD2):c.607-161T>C rs12236118 0.04088
NM_001003800.2(BICD2):c.1062+46C>G rs41273374 0.03880
NM_001003800.2(BICD2):c.2258+101G>A rs116139949 0.03632
NM_001003800.2(BICD2):c.2107-21C>T rs79574551 0.03009
NM_001003800.2(BICD2):c.2106+212C>T rs115209430 0.01259
NM_001003800.2(BICD2):c.606+111A>C rs139023495 0.01081
NM_001003800.2(BICD2):c.1062+120A>G rs115003966 0.00986
NM_001003800.2(BICD2):c.*136G>A rs76331256 0.00984
NM_001003800.2(BICD2):c.2259-285G>A rs115497220 0.00909
NM_001003800.2(BICD2):c.241-294C>T rs116144068 0.00894
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_001003800.2(BICD2):c.2107-83C>T rs187669484 0.00397
NM_001003800.2(BICD2):c.241-267A>C rs188183466 0.00375
NM_001003800.2(BICD2):c.2106+86G>A rs188053727 0.00339
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001003800.2(BICD2):c.1387C>T (p.Arg463Cys) rs78319441 0.00113
NM_001003800.2(BICD2):c.240+8G>T rs371559371 0.00113
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=) rs138300993 0.00112
NM_001003800.2(BICD2):c.813C>T (p.Phe271=) rs150389188 0.00086
NM_001003800.2(BICD2):c.72C>G (p.Ala24=) rs545512590 0.00076
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00065
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=) rs151133287 0.00061
NM_001003800.2(BICD2):c.1044G>A (p.Leu348=) rs77530912 0.00052
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=) rs368860496 0.00042
NM_001003800.2(BICD2):c.454-7C>G rs186469385 0.00040
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00038
NM_001003800.2(BICD2):c.861C>T (p.Asp287=) rs768173580 0.00033
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.1250A>G (p.Asp417Gly) rs55658812 0.00014
NM_001003800.2(BICD2):c.1620C>T (p.His540=) rs375331979 0.00011
NM_001003800.2(BICD2):c.753C>T (p.Arg251=) rs533852054 0.00010
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=) rs761796557 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn) rs777986224 0.00007
NM_001003800.2(BICD2):c.2245A>G (p.Met749Val) rs145923602 0.00007
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile) rs192669216 0.00006
NM_001003800.2(BICD2):c.2217C>T (p.Asp739=) rs142140690 0.00006
NM_001003800.2(BICD2):c.2258+18G>C rs376177099 0.00006
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys) rs748022488 0.00005
NM_001003800.2(BICD2):c.602A>G (p.Asn201Ser) rs201274230 0.00005
NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala) rs771432118 0.00004
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys) rs1014182946 0.00004
NM_001003800.2(BICD2):c.1446G>A (p.Thr482=) rs370920372 0.00004
NM_001003800.2(BICD2):c.2307G>A (p.Ala769=) rs573705109 0.00004
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=) rs184715042 0.00003
NM_001003800.2(BICD2):c.1659G>A (p.Met553Ile) rs374912668 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.2192A>G (p.Asn731Ser) rs756538071 0.00003
NM_001003800.2(BICD2):c.355C>A (p.Leu119Ile) rs377156663 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.-32C>T rs751522125 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.1534G>A (p.Val512Ile) rs748921807 0.00002
NM_001003800.2(BICD2):c.1964G>A (p.Arg655His) rs143242735 0.00002
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=) rs754249319 0.00002
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys) rs754493702 0.00002
NM_001003800.2(BICD2):c.*20G>A rs528694770 0.00001
NM_001003800.2(BICD2):c.1351G>A (p.Glu451Lys) rs150965296 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) rs940304129 0.00001
NM_001003800.2(BICD2):c.162G>C (p.Lys54Asn) rs779949554 0.00001
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp) rs768293659 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.2258+6C>T rs566572599 0.00001
NM_001003800.2(BICD2):c.440A>G (p.Gln147Arg) rs764759240 0.00001
NM_001003800.2(BICD2):c.531G>C (p.Leu177=) rs1057523240 0.00001
NM_001003800.2(BICD2):c.918C>T (p.Gly306=) rs540280844 0.00001
NM_001003800.2(BICD2):c.1007T>C (p.Leu336Pro)
NM_001003800.2(BICD2):c.1121A>G (p.Glu374Gly) rs2131501343
NM_001003800.2(BICD2):c.1294C>A (p.Pro432Thr) rs2490446867
NM_001003800.2(BICD2):c.1310G>C (p.Cys437Ser) rs2490446822
NM_001003800.2(BICD2):c.1333G>A (p.Glu445Lys) rs1057520883
NM_001003800.2(BICD2):c.1354C>A (p.Gln452Lys)
NM_001003800.2(BICD2):c.1405G>C (p.Glu469Gln) rs756111549
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) rs1587668960
NM_001003800.2(BICD2):c.1562G>A (p.Ser521Asn) rs1853397224
NM_001003800.2(BICD2):c.1612T>C (p.Tyr538His) rs2131500475
NM_001003800.2(BICD2):c.1613A>G (p.Tyr538Cys) rs1554705485
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.1646C>T (p.Pro549Leu) rs1064795764
NM_001003800.2(BICD2):c.1658T>G (p.Met553Arg) rs2490444808
NM_001003800.2(BICD2):c.1668C>G (p.Tyr556Ter)
NM_001003800.2(BICD2):c.1697G>T (p.Arg566Leu) rs550312355
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) rs1333312158
NM_001003800.2(BICD2):c.1762A>G (p.Lys588Glu) rs1554705436
NM_001003800.2(BICD2):c.1910A>G (p.Gln637Arg)
NM_001003800.2(BICD2):c.1934T>A (p.Val645Glu) rs2131499781
NM_001003800.2(BICD2):c.198G>T (p.Val66=) rs925398641
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001003800.2(BICD2):c.2048_2059dup (p.Lys686_Arg687insLeuSerThrLys) rs2490442748
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2100C>G (p.Asn700Lys) rs2490442124
NM_001003800.2(BICD2):c.2113G>A (p.Glu705Lys) rs2490440555
NM_001003800.2(BICD2):c.2196G>T (p.Glu732Asp) rs367722713
NM_001003800.2(BICD2):c.2231C>T (p.Ser744Phe) rs1064793875
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003800.2(BICD2):c.2258+18G>A rs376177099
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys) rs1131691347
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.2398G>A (p.Glu800Lys) rs1273239213
NM_001003800.2(BICD2):c.240+222G>A rs114439546
NM_001003800.2(BICD2):c.307C>T (p.Leu103=) rs1554706634
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.331G>T (p.Glu111Ter)
NM_001003800.2(BICD2):c.386G>A (p.Arg129His) rs780485203
NM_001003800.2(BICD2):c.454-234_454-233insGTGTCAG rs61259632
NM_001003800.2(BICD2):c.593T>C (p.Leu198Pro)
NM_001003800.2(BICD2):c.856A>G (p.Ser286Gly) rs2490451904
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del) rs777900476
NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro) rs571839806

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.