ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia, autosomal recessive 27 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)	rs752352896	0.00006
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)	rs547792505	0.00001
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)	rs1557794465

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