List of variants in gene RFC1 reported as likely pathogenic for cerebellar degeneration

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)	rs2600447	0.00001
NM_002913.5(RFC1):c.1255del (p.Glu419fs)
NM_002913.5(RFC1):c.2111-1G>C

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