List of variants in gene STUB1 studied for Spinocerebellar ataxia 48

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.134C>A (p.Ala45Glu)	rs2151503733
NM_005861.4(STUB1):c.154G>A (p.Ala52Thr)	rs2151503748
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)	rs2151504167
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.3G>T (p.Met1Ile)
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	rs779647632
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)	rs2039634238

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