ClinVar Miner

List of variants in gene BICD2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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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.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.1893C>T (p.Ile631=) rs141414055 0.00040
NM_001003800.2(BICD2):c.1842A>G (p.Pro614=) rs200912578 0.00024
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) rs200091763 0.00021
NM_001003800.2(BICD2):c.1370G>A (p.Arg457His) rs370118099 0.00008
NM_001003800.2(BICD2):c.1932C>T (p.Ala644=) rs201930889 0.00005
NM_001003800.2(BICD2):c.2331G>A (p.Thr777=) rs779170531 0.00004
NM_001003800.2(BICD2):c.640C>T (p.Arg214Cys) rs201293367 0.00004
NM_001003800.2(BICD2):c.1707C>T (p.Pro569=) rs552160043 0.00003
NM_001003800.2(BICD2):c.2112C>T (p.Ala704=) rs767670894 0.00002
NM_001003800.2(BICD2):c.365A>G (p.Gln122Arg) rs1477596230 0.00002
NM_001003800.2(BICD2):c.410C>T (p.Ser137Leu) rs779298360 0.00002
NM_001003800.2(BICD2):c.2169C>T (p.Thr723=) rs770335133 0.00001
NM_001003800.2(BICD2):c.170del (p.Leu57fs)
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(BICD2):c.2368C>T (p.Leu790=)
NM_001003800.2(BICD2):c.547G>T (p.Glu183Ter)
NM_001003800.2(BICD2):c.560A>G (p.Glu187Gly) rs2131504115

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