ClinVar Miner

List of variants in gene EPB41 studied for familial hemolytic anemia

Included ClinVar conditions (77):
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Total variants: 60
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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 0.00010
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.1505C>T (p.Ala502Val) rs745905322 0.00001
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620 0.00001
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.1175del (p.Lys392fs) rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
NM_001376013.1(EPB41):c.2563G>A (p.Val855Ile)
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
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.415C>T (p.Leu139Phe)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001376013.1(EPB41):c.629T>C (p.Met210Thr) rs121434564
NM_001376013.1(EPB41):c.629T>G (p.Met210Arg) rs121434564
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter) rs1160118901
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val) rs2149686920
NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)
NM_001376013.1(EPB41):c.902C>G (p.Thr301Arg)
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
NM_004437.3(EPB41):c.1219_1458del
NM_004437.3(EPB41):c.1219_1587del
NM_203342.2(EPB41):c.-159_159del

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