List of variants in gene GORAB reported as likely pathogenic for congenital entropion

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?))	rs1557999318
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter)	rs369967804
NM_152281.3(GORAB):c.1A>G (p.Met1Val)
NM_152281.3(GORAB):c.231dup (p.Pro78fs)	rs1571243797
NM_152281.3(GORAB):c.287del (p.Gly96fs)
NM_152281.3(GORAB):c.408_409del (p.Lys137fs)	rs1085307068
NM_152281.3(GORAB):c.521+2T>G
NM_152281.3(GORAB):c.5del (p.Ala2fs)	rs1571232872

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