List of variants in gene ELP1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
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: 5

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_003640.5(ELP1):c.138dup (p.Val47fs)	rs1564110292
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	rs28939712
NM_003640.5(ELP1):c.312T>C (p.Cys104=)	rs1291760879

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