ClinVar Miner

List of variants reported as benign for Renal tubular acidosis with progressive nerve deafness by Natera, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
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.654C>T (p.Asp218=) rs116139984 0.02971
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145

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