List of variants studied for distal renal tubular acidosis by Yale Center for Mendelian Genomics, Yale University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr)	rs150980575	0.00274
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)	rs782152033	0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)	rs1443883930	0.00001
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)	rs121912744
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)	rs781838938
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	rs121964880
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr)	rs1430578614
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)	rs1806006713
NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu)	rs2117166533
NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup)	rs2140558454
NM_182758.4(WDR72):c.764_768del (p.Gly255fs)	rs1469562355

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