List of variants in gene ELP1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	rs376078668	0.00004
NM_003640.5(ELP1):c.1361-1G>T	rs372225464	0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	rs761911009	0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)	rs762224071	0.00001
NM_003640.5(ELP1):c.1461-1G>T	rs539544212
NM_003640.5(ELP1):c.1854+1G>A	rs1554696934
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)	rs1341613149
NM_003640.5(ELP1):c.304-2A>G	rs757972943
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)	rs769748960
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)	rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)	rs1446325480
NM_003640.5(ELP1):c.641del (p.Pro214fs)	rs759412460

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