ClinVar Miner

List of variants in gene ELP1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 9
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HGVS dbSNP
NM_003640.4(ELP1):c.1144G>A (p.Gly382Arg) rs776167946
NM_003640.4(ELP1):c.2009T>G (p.Phe670Cys) rs139479557
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn)
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392

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