ClinVar Miner

List of variants reported as benign for autosomal recessive proximal renal tubular acidosis

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.2937+22C>T rs1453474 0.85968
NM_001098484.3(SLC4A4):c.2991C>T (p.His997=) rs1453458 0.85630
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218 0.71793
NM_001098484.3(SLC4A4):c.*938G>C rs1062679 0.22831
NM_001098484.3(SLC4A4):c.*77A>C rs1062677 0.18093
NM_001098484.3(SLC4A4):c.*175del rs138389345 0.17341
NM_001098484.3(SLC4A4):c.2443-38G>A rs3733362 0.17313
NM_001098484.3(SLC4A4):c.253+47A>G rs4694388 0.16961
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT rs773069537 0.12949
NM_001098484.3(SLC4A4):c.*1377G>C rs3775157 0.06925
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=) rs34373561 0.03058
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468 0.01254
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_001098484.3(SLC4A4):c.*2416A>G rs16846678 0.01010
NM_001098484.3(SLC4A4):c.*1206A>G rs72854469 0.00833
NM_001098484.3(SLC4A4):c.*2864G>A rs72854486 0.00630
NM_001098484.3(SLC4A4):c.*1220G>A rs72854471 0.00627
NM_001098484.3(SLC4A4):c.*2353C>G rs72854484 0.00624
NM_001098484.3(SLC4A4):c.*2329A>C rs72854481 0.00622
NM_001098484.3(SLC4A4):c.*1986G>A rs72854477 0.00620
NM_001098484.3(SLC4A4):c.*1665C>T rs72854473 0.00592
NM_001098484.3(SLC4A4):c.*2152G>T rs151178899 0.00498
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) rs148635969 0.00135
NM_001098484.3(SLC4A4):c.*1945A>T rs375540927 0.00004
NM_001098484.3(SLC4A4):c.*2346T>C rs369784676 0.00004
NM_001098484.3(SLC4A4):c.*628T>G rs368650087 0.00004
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=) rs147261946 0.00004
NM_001098484.3(SLC4A4):c.*411G>C rs1453452
NM_001098484.3(SLC4A4):c.*989T>A rs34921070
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537

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