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

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Total variants: 8

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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.2518A>G (p.Met840Val)	rs121909396	0.00001
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr)	rs869320722
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys)	rs121909393
NM_001174089.2(SLC4A11):c.2185_2192dup (p.Ile732fs)	rs764217666
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs)	rs869320721
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro)	rs121909395
NM_032034.4:c.2423_2454del

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