ClinVar Miner

List of variants in gene CAPN1 reported as benign for Autosomal recessive spastic paraplegia type 76

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005186.4(CAPN1):c.1341+25A>T rs2271450 0.34753
NM_005186.4(CAPN1):c.338-102A>T rs2277307 0.24172
NM_005186.4(CAPN1):c.363C>T (p.Ile121=) rs17583 0.24155
NM_005186.4(CAPN1):c.843+114del rs3832790

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