List of variants in gene EBP reported as pathogenic for MEND syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006579.3(EBP):c.139T>C (p.Trp47Arg)	rs878854359
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)	rs587783599
NM_006579.3(EBP):c.224T>A (p.Ile75Asn)	rs797045153
NM_006579.3(EBP):c.53T>C (p.Leu18Pro)	rs104894795

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