ClinVar Miner

List of variants in gene ATP6AP2 reported as likely benign by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.534+191C>A rs141736428 0.01348
NM_005765.2(ATP6AP2):c.-157T>C rs183187874 0.01070
NM_005765.3(ATP6AP2):c.300+309G>C rs143698053 0.01043
NM_005765.3(ATP6AP2):c.301-295G>A rs112695938 0.01035
NM_005765.3(ATP6AP2):c.301-34A>T rs146546768 0.00607
NM_005765.3(ATP6AP2):c.535-312G>A rs763139936 0.00457
NM_005765.3(ATP6AP2):c.38-104G>A rs140986900 0.00406
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341 0.00009
NM_005765.3(ATP6AP2):c.397-13A>G rs369015249 0.00008
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=) rs372993268 0.00007
NM_005765.3(ATP6AP2):c.588+7A>G rs377112095 0.00006
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=) rs149902247 0.00006
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=) rs748408839 0.00004
NM_005765.3(ATP6AP2):c.859-11C>T rs767283025 0.00004
NM_005765.3(ATP6AP2):c.300+19A>C rs763279174 0.00003
NM_005765.3(ATP6AP2):c.-36C>T rs1057521485 0.00001
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=) rs771044157 0.00001
NM_005765.2(ATP6AP2):c.-120G>C rs186401295
NM_005765.3(ATP6AP2):c.316C>A (p.Leu106Ile) rs2146542542
NM_005765.3(ATP6AP2):c.396+20T>C rs1602402155
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_005765.3(ATP6AP2):c.535-14dup rs759090833

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