ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
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.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) rs782500780 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs) rs782549406
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) rs1680484812
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs) rs1679840748
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) rs1553415274
NM_001692.4(ATP6V1B1):c.687+1G>T
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) rs121964879
NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter) rs2104831698

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