List of variants studied for Renal tubular acidosis with progressive nerve deafness by Counsyl

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)	rs116139984	0.02971
NM_001692.4(ATP6V1B1):c.1248+9A>G	rs78140305	0.02887
NM_001692.4(ATP6V1B1):c.*12G>A	rs77794859	0.02854
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)	rs114234874	0.02502
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=)	rs144845223	0.00779
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)	rs199914263	0.00019
NM_001692.4(ATP6V1B1):c.785+10C>T	rs76241121	0.00018
NM_001692.4(ATP6V1B1):c.368-6C>T	rs200038589	0.00016
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=)	rs141969350	0.00010
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)	rs145196117	0.00006
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)	rs145536062	0.00004
NM_001692.4(ATP6V1B1):c.1248+1G>C	rs1553420702	0.00001
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu)	rs544337438
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)	rs1553419751
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)	rs145735762
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro)	rs782461130

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