List of variants in gene ENG reported as likely pathogenic for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.-9G>A	rs368423516	0.00040
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.-10C>T	rs756994701	0.00001
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.360+5G>C	rs1060501417
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	rs750115837
NM_001114753.3(ENG):c.583del (p.Glu195fs)	rs1554810413
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)	rs2131888057
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)	rs1060501415
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)	rs1564462834
NM_001114753.3(ENG):c.895del (p.Leu299fs)	rs1064795636
NM_001114753.3(ENG):c.896_991+90del	rs1554810125
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486

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