List of variants in gene EPB42 reported by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)	rs515726212	0.00009
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	rs104894487	0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)	rs515726211	0.00001
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	rs121917734
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)	rs143682977
NM_001114134.2(EPB42):c.860del (p.Arg287fs)	rs515726213

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