List of variants in gene EPB42 reported as pathogenic for hematologic disorder

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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_001114134.2(EPB42):c.1041G>T (p.Gln347His)	rs574359460	0.00002
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	rs104894487	0.00001
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter)	rs115998465
NM_000119.2(EPB42):c.922+1G>A	rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	rs121917734
NM_001114134.2(EPB42):c.175del (p.Val59fs)	rs266257354
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)	rs143682977

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