List of variants in gene BICD2 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.1502G>C (p.Arg501Pro)	rs398123032
NM_001003800.2(BICD2):c.1519AAG[1] (p.Lys508del)	rs2131500576
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)	rs398123031
NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val)	rs1587668798
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.1922T>A (p.Leu641Gln)
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.2239C>T (p.Arg747Cys)	rs1587667544
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
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.563A>C (p.Asn188Thr)	rs398123029
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)	rs1587671674
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg)	rs1564061982

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