List of variants in gene STUB1 reported as pathogenic for cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	rs690016544
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)	rs2151504209
NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)	rs587777346
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)	rs587777347
NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	rs587777344
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)	rs587777341
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	rs779647632
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)	rs587777342
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)	rs587777340
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)	rs2039634238

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