ClinVar Miner

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

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Total variants: 42
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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 0.00952
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00828
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00727
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
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.263A>G (p.Lys88Arg) rs141680585 0.00116
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg) rs144499540 0.00067
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile) rs146073770 0.00050
NM_001376013.1(EPB41):c.786+3G>A rs146976856 0.00048
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val) rs201674226 0.00017
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00017
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=) rs139530083 0.00013
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) rs201227668 0.00010
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=) rs765049006 0.00007
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_001376013.1(EPB41):c.2184+36G>A rs760095510 0.00004
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp) rs199751917 0.00003
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln) rs201952060 0.00001
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg) rs745902060 0.00001
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.1523G>A (p.Arg508Gln)
NM_001376013.1(EPB41):c.1598G>A (p.Arg533His)
NM_001376013.1(EPB41):c.1898C>G (p.Thr633Arg)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2156T>C (p.Ile719Thr)
NM_001376013.1(EPB41):c.2313+8A>G
NM_001376013.1(EPB41):c.2355G>A (p.Leu785=)
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr) rs140065972
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001376013.1(EPB41):c.487A>G (p.Arg163Gly)
NM_001376013.1(EPB41):c.520G>A (p.Glu174Lys)
NM_001376013.1(EPB41):c.636C>T (p.Cys212=)
NM_001376013.1(EPB41):c.640G>C (p.Val214Leu) rs111642750
NM_001376013.1(EPB41):c.741del (p.Glu248fs)
NM_001376013.1(EPB41):c.826C>T (p.Arg276Cys)
NM_001376013.1(EPB41):c.830-13T>G
NM_001376013.1(EPB41):c.9A>G (p.Thr3=)

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