ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by MGZ Medical Genetics Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)	rs887515522	0.00001
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	rs1554984881
NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)	rs2496552835
NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)	rs2495703164

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