List of variants reported as likely pathogenic for autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures by Invitae

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp)	rs1587668769
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)	rs1587668748
NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys)	rs1587668748
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu)	rs1853375829
NM_001003800.2(BICD2):c.2058G>T (p.Lys686Asn)	rs376312313
NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg)	rs1587668077
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe)	rs1587671674
NM_001003800.2(BICD2):c.567C>G (p.Ile189Met)	rs2131504104

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