ClinVar Miner

List of variants reported as benign for Autosomal recessive distal renal tubular acidosis

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1573-86T>C rs1037692 0.74906
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_020632.3(ATP6V0A4):c.722+79T>C rs296910 0.68266
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_020632.3(ATP6V0A4):c.1478+45G>A rs55843107 0.33512
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.-199C>T rs138299222 0.01070
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_020632.3(ATP6V0A4):c.-169C>T rs199654929 0.00229
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124 0.00060
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_020632.3(ATP6V0A4):c.-137C>T rs368646400 0.00003

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