List of variants in gene EPB41 reported as pathogenic for hemolytic anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001376013.1(EPB41):c.1071_1077del (p.Asn358fs)	rs869025285
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.741del (p.Glu248fs)
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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