ClinVar Miner

List of variants reported as uncertain significance for corneal dystrophy-perceptive deafness syndrome

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.1635G>A (p.Thr545=) rs201133609 0.00023
NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=) rs749352950 0.00021
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876 0.00013
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=) rs199634796 0.00012
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175 0.00007
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003
NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=) rs764910925 0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=) rs149548266 0.00003
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114 0.00001
NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=) rs761675091 0.00001
NM_001174089.2(SLC4A11):c.1168+10T>G rs1439498080
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=) rs2067673861
NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=) rs1568527712
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507

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