ClinVar Miner

List of variants in gene SLC4A11 reported as likely benign for corneal dystrophy-perceptive deafness syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=) rs201982813
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=) rs372681319
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=) rs1600561128
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552
NM_001174089.2(SLC4A11):c.242-5G>A rs775424811
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=) rs200345104
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=) rs756221460
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=) rs150937996
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=) rs35732230
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682

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