ClinVar Miner

List of variants reported as likely benign for Elliptocytosis 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp) rs138888144 0.00496
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00015
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)

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