ClinVar Miner

List of variants reported as uncertain significance 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.1049T>C (p.Ile350Thr) rs370322948
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=) rs764910925
NM_001174089.2(SLC4A11):c.1168+10T>G rs1439498080
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114
NM_001174089.2(SLC4A11):c.1635G>A (p.Thr545=) rs201133609
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=) rs1568527712
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=) rs761675091
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=)
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=) rs749352950
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876

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