ClinVar Miner

List of variants reported as likely benign for acidosis disorder

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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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_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_001098484.3(SLC4A4):c.*3106G>A rs114563047 0.00995
NM_001098484.3(SLC4A4):c.*272T>C rs142360815 0.00942
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 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_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
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_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_001098484.3(SLC4A4):c.*4028A>G rs565713938 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 0.00001
NM_001098484.3(SLC4A4):c.*58del rs796456055
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473

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