ClinVar Miner

List of variants in gene ECEL1 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr) rs1529874 0.96312
NM_004826.4(ECEL1):c.1797-10G>A rs76290356 0.02730
NM_004826.4(ECEL1):c.1995C>T (p.Asn665=) rs61731716 0.01605
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln) rs41265123 0.01449
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688 0.00909
NM_004826.4(ECEL1):c.51C>A (p.Val17=) rs191331240 0.00472
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=) rs1190429 0.00451
NM_004826.4(ECEL1):c.720C>A (p.Ser240Arg) rs191821453 0.00220
NM_004826.4(ECEL1):c.411C>T (p.Arg137=) rs376256094 0.00033
NM_004826.4(ECEL1):c.328C>G (p.Arg110Gly) rs202167077

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