ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_001692.4(ATP6V1B1):c.-17C>T rs202030952 0.00210
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
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.926A>G (p.Glu309Gly) rs201556073 0.00012
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=) rs145734697 0.00009
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) rs151191933 0.00007
NM_001692.4(ATP6V1B1):c.585+7C>G rs369075264 0.00006
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=) rs781880491 0.00002
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=) rs1045132687 0.00002
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=) rs782782168 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=) rs1471681639 0.00001
NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=) rs1553415239 0.00001
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670

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