ClinVar Miner

List of variants studied for Elliptocytosis 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) rs111642750 0.02894
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.1700G>A (p.Gly567Asp) rs138888144 0.00496
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.2229C>T (p.Ala743=) rs117306261 0.00015
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) rs201227668 0.00006
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln) rs201952060 0.00004
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654

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