ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by GenomeConnect - Invitae Patient Insights Network

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)	rs372981030	0.00001
NM_003119.4(SPG7):c.759-2A>G	rs770299071	0.00001

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