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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
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.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.1356del (p.Phe452fs)	rs782549406
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	rs121964880

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