List of variants in gene CLDN19 reported as pathogenic for retinal disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	rs118203979	0.00003
NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)	rs118203980
NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)	rs118203980
NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)
NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)	rs118203981
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	rs118203981
NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)	rs1557551678
NM_148960.3(CLDN19):c.427del (p.Leu143fs)	rs2124044159
NM_148960.3(CLDN19):c.474-1G>C	rs973088841

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