ClinVar Miner

List of variants reported as uncertain significance for Elliptocytosis 1 by Revvity Omics, Revvity

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile) rs146073770 0.00050
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser) rs373464494 0.00008
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met) rs182542991 0.00007
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His) rs762682968 0.00007
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly) rs769650632 0.00004
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp) rs199751917 0.00003
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln) rs981043937 0.00003
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val) rs552908580 0.00003
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile) rs200826045 0.00002
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val) rs745905322 0.00001
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr) rs147642551 0.00001
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr) rs758603245 0.00001
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu) rs751257027
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala) rs1423537916
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val) rs2149686920
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile) rs2096602430

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