ClinVar Miner

List of variants reported for Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_001003800.2(BICD2):c.1401C>T (p.His467=) rs144442734 0.00009
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551

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