List of variants in gene ELP1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)	rs41278359	0.00732
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00218
NM_003640.5(ELP1):c.1143G>A (p.Val381=)	rs35936107	0.00210
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	rs148378319	0.00203
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	rs148917889	0.00043
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	rs369645371	0.00038
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)	rs146956297	0.00021
NM_003640.5(ELP1):c.2025C>T (p.Ala675=)	rs200532312	0.00020
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	rs3737311	0.00014
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)	rs367974002	0.00005
NM_003640.5(ELP1):c.93G>T (p.Gly31=)	rs778404648	0.00001
NM_003640.5(ELP1):c.-155A>T	rs117100816
NM_003640.5(ELP1):c.209G>A (p.Arg70His)	rs111936933
NM_003640.5(ELP1):c.2787T>C (p.Thr929=)	rs1564081993

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