ClinVar Miner

List of variants reported as benign for Corneal dystrophy-perceptive deafness syndrome by Natera, Inc.

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_001174089.2(SLC4A11):c.89-8G>T rs3803957 0.27831
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) rs3803956 0.17522
NM_001174089.2(SLC4A11):c.2389-9C>T rs41281858 0.17452
NM_001174089.2(SLC4A11):c.2018+7A>G rs753806855 0.11179
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09317
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08722
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05831
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser) rs34520315 0.01248
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=) rs7262506 0.00889
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=) rs76962118 0.00795
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=) rs140461431 0.00580
NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=) rs139086376 0.00546
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=) rs35262978 0.00466
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653 0.00393
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=) rs144123179 0.00316
NM_001174089.2(SLC4A11):c.1043-10C>T rs201799793 0.00219
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln) rs112163941 0.00170
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=) rs139297339 0.00099
NM_001174089.2(SLC4A11):c.44-8C>G rs146575952 0.00099
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=) rs149912717 0.00096
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566 0.00073
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=) rs201595005 0.00063
NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=) rs201613216 0.00039
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330 0.00038
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=) rs368001060 0.00021
NM_001174089.2(SLC4A11):c.44-73C>T rs200343026 0.00021
NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=) rs200760447 0.00014
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=) rs190463957 0.00012
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=) rs149866580 0.00012
NM_001174089.2(SLC4A11):c.729+10T>C rs372201212 0.00006
NM_001174089.2(SLC4A11):c.2277G>A (p.Pro759=) rs373053580 0.00004
NM_001174089.2(SLC4A11):c.2559-5C>T rs561993804 0.00001

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