ClinVar Miner

List of variants in gene SLC4A11 reported as benign for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.1415+97T>G rs3810561 0.72417
NM_001174089.2(SLC4A11):c.44-400C>G rs3810562 0.65483
NM_001400277.1(SLC4A11):c.-15+100T>C rs6107260 0.65355
NM_001174089.2(SLC4A11):c.1489+141T>C rs6139039 0.62765
NM_001174089.2(SLC4A11):c.729+140C>A rs2144771 0.50909
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_001174089.2(SLC4A11):c.44-121G>C rs3827076 0.44987
NM_001174089.2(SLC4A11):c.1043-15A>C rs3803953 0.43502
NM_001174089.2(SLC4A11):c.2193-18C>T rs2281575 0.39893
NM_001174089.2(SLC4A11):c.88+189G>A rs4142381 0.37902
NM_001174089.2(SLC4A11):c.89-8G>T rs3803957 0.27831
NM_001174089.2(SLC4A11):c.730-31T>C rs540847946 0.22407
NM_001174089.2(SLC4A11):c.730-29_730-28insC rs147477986 0.22402
NM_001174089.2(SLC4A11):c.292-86G>C rs6139040 0.20545
NM_001174089.2(SLC4A11):c.88+201A>C rs6037508 0.19777
NM_001174089.2(SLC4A11):c.730-29T>A rs573322136 0.19676
NM_001174089.2(SLC4A11):c.729+34G>A rs3803955 0.17603
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.1283-11C>T rs41281862 0.09711
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.*34C>T rs6051657 0.06969
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001174089.2(SLC4A11):c.291+126G>A rs6133022

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