ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 4 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_014946.4(SPAST):c.343C>T (p.Arg115Cys) rs1272546651 0.00001
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.4(SPAST):c.683-15C>G rs1678752312
NM_014946.4(SPAST):c.870+1G>T rs1553314978

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