List of variants in gene ELP1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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.1886G>A (p.Arg629His)	rs148378319	0.00203
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)	rs139703788	0.00076
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)	rs374814563	0.00026
NM_003640.5(ELP1):c.3931+1G>T	rs143674809	0.00010
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)	rs367582146	0.00002
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)	rs200634033	0.00001
NM_003640.5(ELP1):c.1189+20G>A	rs999307275
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)	rs1828577961
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)	rs180931232
NM_003640.5(ELP1):c.3572+5G>A	rs773132143
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)

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