ClinVar Miner

List of variants in gene ATP6V1B1 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001692.4(ATP6V1B1):c.-17C>T rs202030952
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073

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