ClinVar Miner

List of variants reported as pathogenic for Renal tubular acidosis with progressive nerve deafness by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581 0.00002
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751

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