ClinVar Miner

List of variants reported as benign for Renal tubular acidosis with progressive nerve deafness

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700 0.57743
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_001692.4(ATP6V1B1):c.1060+103G>A rs2072463 0.37308
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_001692.4(ATP6V1B1):c.1249-89C>T rs2270263 0.34451
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147 0.11515
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001692.4(ATP6V1B1):c.118+18C>T rs35768563 0.02289
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_001692.4(ATP6V1B1):c.*68C>T rs144725809 0.00141
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_001692.4(ATP6V1B1):c.*80C>T rs117574187 0.00056
NM_001692.4(ATP6V1B1):c.274-72A>C rs967063
NM_001692.4(ATP6V1B1):c.586-140G>A rs2072458

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