List of variants in gene ELP1 reported as benign by PreventionGenetics, part of Exact Sciences

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu)	rs2230793	0.27106
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)	rs2230792	0.26279
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)	rs3204145	0.21876
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu)	rs1538660	0.21853
NM_003640.5(ELP1):c.3285+9C>T	rs2275495	0.18606
NM_003640.5(ELP1):c.741-15dup	rs398102543	0.11790
NM_003640.5(ELP1):c.1926G>A (p.Thr642=)	rs10979605	0.09707
NM_003640.5(ELP1):c.1965C>T (p.Thr655=)	rs2230791	0.09637
NM_003640.5(ELP1):c.441G>A (p.Gln147=)	rs2230788	0.07986
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln)	rs838827	0.07294
NM_003640.5(ELP1):c.545T>A (p.Met182Lys)	rs10521092	0.06528
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met)	rs2230794	0.05069
NM_003640.5(ELP1):c.819C>T (p.Leu273=)	rs12340246	0.04943
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)	rs2230795	0.03328
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	rs2230798	0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	rs61749202	0.01463
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)	rs138023874	0.00791
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=)	rs1063110

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