List of variants in gene SLC4A11 reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)	rs149912717	0.00096
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	rs138262189	0.00042
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	rs143965185	0.00027
NM_001174089.2(SLC4A11):c.1159G>A (p.Gly387Arg)	rs532348574	0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	rs751797233	0.00003
NM_001174089.2(SLC4A11):c.1043-15_1043-10delinsCTCCCT
NM_001174089.2(SLC4A11):c.1423GAG[1] (p.Glu476del)
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	rs755379986
NM_001174089.2(SLC4A11):c.1786G>A (p.Ala596Thr)
NM_001174089.2(SLC4A11):c.1786G>T (p.Ala596Ser)
NM_001174089.2(SLC4A11):c.44-358C>T
NM_001174089.2(SLC4A11):c.44-74dup	rs778455666
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	rs2122588507

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