List of variants in gene ELP1 reported by Eurofins NTD LLC (GA)

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)	rs2230792	0.26279
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.1886G>A (p.Arg629His)	rs148378319	0.00203
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)	rs146440397	0.00098
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)	rs139583037	0.00038
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	rs3737311	0.00014
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)	rs138192941	0.00011
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)	rs776167946	0.00006
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)	rs756919296	0.00003
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)	rs1291760879	0.00002
NM_003640.5(ELP1):c.1461-2A>G	rs866046915	0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)	rs374558203	0.00001
NM_003640.5(ELP1):c.3152C>T (p.Thr1051Ile)	rs747546817	0.00001

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