ClinVar Miner

List of variants studied for Cerebellar ataxia; Muscle weakness; Dysarthria; Abnormal pyramidal sign by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.751+5G>A	rs781934508	0.00001
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	rs782316919

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