List of variants in gene EPB41 reported as likely pathogenic for Elliptocytosis 1

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001376013.1(EPB41):c.1944+1G>C	rs1477424620	0.00001
NM_001376013.1(EPB41):c.1175del (p.Lys392fs)	rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)	rs2150754040
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter)	rs2151005632
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter)	rs1160118901
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)

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