ClinVar Miner

List of variants studied for Infantile-onset X-linked spinal muscular atrophy by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547

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