List of variants in gene SLC4A11 reported as pathogenic for Fuchs' endothelial dystrophy

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	rs121909394	0.00005
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)	rs267607066	0.00003
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)	rs267607065
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu)	rs267607064
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	rs772409032
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)	rs1600618680

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