List of variants in gene EPB42 reported as likely 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001114134.2(EPB42):c.1501del (p.Ser501fs)	rs777764528	0.00001
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)	rs772330879	0.00001
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	rs121917734
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	rs2142314789
NM_001114134.2(EPB42):c.971+8_971+9delinsAA	rs2142290623

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