ClinVar Miner

List of variants in gene BICD2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.602A>G (p.Asn201Ser) rs201274230 0.00005
NM_001003800.2(BICD2):c.1421A>G (p.Tyr474Cys) rs1014182946 0.00004
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.1417C>T (p.Arg473Cys) rs142203302 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys) rs754493702 0.00002
NM_001003800.2(BICD2):c.1351G>A (p.Glu451Lys) rs150965296 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.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.1658T>G (p.Met553Arg) rs2490444808
NM_001003800.2(BICD2):c.1668C>G (p.Tyr556Ter)
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.2048_2059dup (p.Lys686_Arg687insLeuSerThrLys) rs2490442748
NM_001003800.2(BICD2):c.2196G>T (p.Glu732Asp) rs367722713
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003800.2(BICD2):c.2398G>A (p.Glu800Lys) rs1273239213
NM_001003800.2(BICD2):c.331G>T (p.Glu111Ter)
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.