ClinVar Miner

List of variants in gene SLC4A4 reported as likely benign for autosomal recessive proximal renal tubular acidosis

Included ClinVar conditions (1):
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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.*2028A>G rs72854478 0.02380
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_001098484.3(SLC4A4):c.*3106G>A rs114563047 0.00995
NM_001098484.3(SLC4A4):c.*272T>C rs142360815 0.00942
NM_001098484.3(SLC4A4):c.*2428T>C rs114778480 0.00736
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln) rs140846842 0.00528
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_001098484.3(SLC4A4):c.550+3A>G rs199790542 0.00289
NM_001098484.3(SLC4A4):c.*1228A>G rs116277651 0.00265
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=) rs114698511 0.00156
NM_001098484.3(SLC4A4):c.807+13T>G rs116455604 0.00154
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_001098484.3(SLC4A4):c.*4028A>G rs565713938 0.00001
NM_001098484.3(SLC4A4):c.*58del rs796456055
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845

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