List of variants in gene ELP1 reported as likely benign 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: 35

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HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2204+18G>C	rs115641835	0.00213
NM_003640.5(ELP1):c.909C>G (p.Val303=)	rs142420285	0.00038
NM_003640.5(ELP1):c.3855+19G>A	rs113767921	0.00026
NM_003640.5(ELP1):c.3477C>T (p.His1159=)	rs141257064	0.00016
NM_003640.5(ELP1):c.2205-7C>T	rs148221146	0.00012
NM_003640.5(ELP1):c.1644-13T>C	rs557540663	0.00009
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)	rs771318456	0.00007
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)	rs766875245	0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)	rs184739734	0.00005
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)	rs751808911	0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)	rs746303238	0.00004
NM_003640.5(ELP1):c.3932-18T>G	rs767184876	0.00004
NM_003640.5(ELP1):c.865-9C>T	rs748084965	0.00004
NM_003640.5(ELP1):c.958+20C>T	rs370413742	0.00004
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)	rs1057521262	0.00003
NM_003640.5(ELP1):c.2587+10C>T	rs771045250	0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)	rs372541751	0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=)	rs775602185	0.00002
NM_003640.5(ELP1):c.1190-4G>A	rs774965847	0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)	rs371100951	0.00001
NM_003640.5(ELP1):c.1909-17C>G	rs373498962	0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)	rs181121832	0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)	rs764837607	0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)	rs751179612	0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=)	rs529456133	0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)	rs112178985	0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)	rs201242444	0.00001
NM_003640.5(ELP1):c.3855+18C>T	rs557015443	0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=)	rs371923882	0.00001
NM_003640.5(ELP1):c.1644-13dup	rs756059162
NM_003640.5(ELP1):c.2283+11_2283+15del	rs778115996
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)	rs780726202
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)	rs180931232
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)	rs1063110
NM_003640.5(ELP1):c.958+19_958+20delinsAT	rs2132024951

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