List of variants in gene EBP reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
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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: 15

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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.187C>T (p.Arg63Ter)	rs104894799
NM_006579.3(EBP):c.224T>A (p.Ile75Asn)	rs797045153
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)	rs104894800
NM_006579.3(EBP):c.338+1G>T	rs1569479885
NM_006579.3(EBP):c.33C>A (p.Tyr11Ter)	rs878854358
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)	rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs)	rs1569479901
NM_006579.3(EBP):c.440G>A (p.Arg147His)	rs28935174
NM_006579.3(EBP):c.523C>T (p.Gln175Ter)	rs104894793
NM_006579.3(EBP):c.53T>C (p.Leu18Pro)	rs104894795
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)	rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter)	rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter)	rs104894798

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