ClinVar Miner

List of variants in gene BICD2 studied for not specified

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Total variants: 37
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HGVS dbSNP gnomAD frequency
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.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.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.1044G>A (p.Leu348=) rs77530912 0.00017
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=) rs761796557 0.00009
NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn) rs777986224 0.00007
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.981G>A (p.Pro327=) rs200288349 0.00006
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.1707C>T (p.Pro569=) rs552160043 0.00003
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=) rs184715042 0.00002
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=) rs754249319 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.1376C>T (p.Thr459Met) rs777065935 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.-2C>T
NM_001003800.2(BICD2):c.1407G>C (p.Glu469Asp) rs1853403291
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup) rs998616675
NM_001003800.2(BICD2):c.198G>T (p.Val66=) rs925398641
NM_001003800.2(BICD2):c.2258+18G>A rs376177099
NM_001003800.2(BICD2):c.307C>T (p.Leu103=) rs1554706634

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