List of variants in gene PUM1 reported as uncertain significance for Spinocerebellar ataxia 47

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu)	rs528903842	0.00002
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr)	rs1017436032
NM_001020658.2(PUM1):c.1448C>T (p.Ala483Val)
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu)	rs779524509
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met)	rs1640041056
NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys)	rs1639226190
NM_001020658.2(PUM1):c.364G>A (p.Val122Met)	rs1643312973
NM_001020658.2(PUM1):c.50C>T (p.Ser17Phe)
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)	rs1187853515
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)	rs1641834551
NM_001020658.2(PUM1):c.926T>C (p.Val309Ala)
NM_001020658.2(PUM1):c.949A>C (p.Asn317His)	rs2124486243

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