List of variants in gene ELP1 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	rs1140064	0.02197
NM_003640.5(ELP1):c.959-15C>T	rs112114410	0.01906
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	rs17853166	0.01640
NM_003640.5(ELP1):c.2587+14C>T	rs141670242	0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	rs2230798	0.01592
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599	0.00218
NM_003640.5(ELP1):c.3347-15A>G	rs200154542	0.00073
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	rs369645371	0.00038
NM_003640.5(ELP1):c.3222+14C>T	rs374787755	0.00013
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)	rs145484092	0.00003
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)	rs149845612

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