List of variants in gene ELP1 reported as pathogenic for embryonal neoplasm

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)	rs1291760879	0.00002
NM_003640.5(ELP1):c.1461-2A>G	rs866046915	0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	rs761911009	0.00001
NM_003640.5(ELP1):c.138dup (p.Val47fs)	rs1564110292
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	rs137853022
NM_003640.5(ELP1):c.312T>C (p.Cys104=)	rs1291760879
NM_003640.5(ELP1):c.3286-1G>A

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