ClinVar Miner

List of variants in gene BICD2 reported by GeneDx

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.1063-111G>C rs56339669 0.26288
NM_001003800.2(BICD2):c.453+212A>G rs2296080 0.26205
NM_001003800.2(BICD2):c.2259-206C>A rs10992430 0.26148
NM_001003800.2(BICD2):c.240+120C>G rs2277164 0.26013
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 0.07899
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 0.03700
NM_001003800.2(BICD2):c.2258+101G>A rs116139949 0.03514
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.2259-285G>A rs115497220 0.00988
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.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.1806G>A (p.Thr602=) rs138300993 0.00118
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.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.1050G>A (p.Gln350=) rs368860496 0.00044
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001003800.2(BICD2):c.454-7C>G rs186469385 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.1044G>A (p.Leu348=) rs77530912 0.00017
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 0.00009
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.2142G>C (p.Lys714Asn) rs777986224 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.602A>G (p.Asn201Ser) rs201274230 0.00006
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.1696C>T (p.Arg566Cys) rs748022488 0.00004
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.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.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.-32C>T rs751522125 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.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.2307G>A (p.Ala769=) rs573705109 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.1121A>G (p.Glu374Gly) rs2131501343
NM_001003800.2(BICD2):c.1294C>A (p.Pro432Thr)
NM_001003800.2(BICD2):c.1310G>C (p.Cys437Ser)
NM_001003800.2(BICD2):c.1333G>A (p.Glu445Lys) rs1057520883
NM_001003800.2(BICD2):c.1405G>C (p.Glu469Gln) rs756111549
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)
NM_001003800.2(BICD2):c.1697G>T (p.Arg566Leu) rs550312355
NM_001003800.2(BICD2):c.1762A>G (p.Lys588Glu) rs1554705436
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)
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2100C>G (p.Asn700Lys)
NM_001003800.2(BICD2):c.2113G>A (p.Glu705Lys)
NM_001003800.2(BICD2):c.2196G>T (p.Glu732Asp)
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.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.386G>A (p.Arg129His) rs780485203
NM_001003800.2(BICD2):c.454-234_454-233insGTGTCAG rs61259632
NM_001003800.2(BICD2):c.856A>G (p.Ser286Gly)

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