ClinVar Miner

List of variants in gene ELP1 reported by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110

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