ClinVar Miner

List of variants in gene EPB41 reported as benign for Elliptocytosis 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178

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