ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 50 by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln) rs565296810 0.00002
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=) rs746663793 0.00001
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126

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