List of variants in gene ELOVL5 reported as uncertain significance for autosomal dominant cerebellar ataxia

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)	rs761391551	0.00001
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu)	rs1766783949
NM_021814.5(ELOVL5):c.246+3859C>G
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)
NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser)	rs1766062667
NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)

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