ClinVar Miner

List of variants in gene ELP1 reported as likely benign by Invitae

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_003640.5(ELP1):c.1224G>A (p.Val408=) rs151157900
NM_003640.5(ELP1):c.1656G>A (p.Ala552=) rs200535861
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=) rs781623768
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.650-7C>T rs368410371
NM_003640.5(ELP1):c.865-9C>T rs748084965
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889

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