ClinVar Miner

List of variants in gene BICD2 reported as pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
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.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.2320G>A (p.Glu774Lys) rs1131691347
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe) rs1587671674

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