ClinVar Miner

List of variants reported as uncertain significance for Renal tubular acidosis with progressive nerve deafness by Counsyl

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130

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