List of variants in gene BICD2 reported as pathogenic for autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.1523A>C (p.Lys508Thr)	rs398123031
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)	rs1587667544
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
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

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