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

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)	rs119455951	0.00002
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter)	rs119455952	0.00001
GORAB, 1-BP DEL, 257C
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?))	rs1557999318
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)	rs1461050152
NM_152281.3(GORAB):c.231dup (p.Pro78fs)	rs1571243797
NM_152281.3(GORAB):c.257del (p.Pro86fs)
NM_152281.3(GORAB):c.316C>T (p.Gln106Ter)
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)	rs183596463
NM_152281.3(GORAB):c.662+5G>C	rs1330106644

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