List of variants in gene PUM1 reported as likely pathogenic for Spinocerebellar ataxia 47

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)	rs771145682	0.00001
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)	rs1640658015
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)	rs1557541619
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)	rs1644321851

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