ClinVar Miner

List of variants in gene ELP1 reported as likely benign for not specified

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Total variants: 31
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HGVS dbSNP
NM_003640.4(ELP1):c.1644-15_1644-13delCCT rs753571092
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.-64G>A rs575166769
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.150+16A>G rs148164198
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.5(ELP1):c.2015-20T>C rs760415006
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.2204+18G>C rs115641835
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802
NM_003640.5(ELP1):c.3222+14C>T rs374787755
NM_003640.5(ELP1):c.3346+7G>T rs144631706
NM_003640.5(ELP1):c.3347-15A>G rs200154542
NM_003640.5(ELP1):c.3460+13G>A rs149897637
NM_003640.5(ELP1):c.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3856-14dup rs1554737879
NM_003640.5(ELP1):c.650-7C>T rs368410371
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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