ClinVar Miner

List of variants studied for Autosomal recessive spastic paraplegia type 76 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00011
NM_005186.4(CAPN1):c.532_558del (p.Val178_Phe186del) rs2137317649
NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter) rs1033093801

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