ClinVar Miner

List of variants in gene ELP1 reported by PreventionGenetics

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Total variants: 16
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HGVS dbSNP
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.741-15dup rs398102543
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246

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