List of variants reported as uncertain significance for congenital hereditary endothelial dystrophy of cornea

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	rs3827075	0.49054
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	rs138262189	0.00042
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	rs143965185	0.00029
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)	rs752287261	0.00005
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	rs751797233	0.00003
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	rs771135532	0.00002
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	rs762942751	0.00001
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	rs755379986
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	rs1482631297
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	rs2122588507
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	rs1939636114

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