List of variants reported as likely pathogenic for Corneal dystrophy-perceptive deafness syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.1282+1G>A	rs776659347	0.00003
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)	rs748362724	0.00003
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)	rs1233324021	0.00001
NM_001174089.2(SLC4A11):c.575del (p.Val192fs)	rs2067871973	0.00001
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	rs762942751	0.00001
NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val)	rs1298347142	0.00001
NM_001174089.2(SLC4A11):c.1205G>A (p.Gly402Asp)
NM_001174089.2(SLC4A11):c.1253C>T (p.Thr418Ile)
NM_001174089.2(SLC4A11):c.1416-1G>C	rs2067710234
NM_001174089.2(SLC4A11):c.1490-2A>G	rs1430176022
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	rs1482631297
NM_001174089.2(SLC4A11):c.44-91A>G
NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)

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