ClinVar Miner

List of variants in gene ATP6V1E1 reported as benign for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001696.4(ATP6V1E1):c.276+266G>A rs5747268 0.58773
NM_001696.4(ATP6V1E1):c.-30A>G rs7751 0.40192
NM_001696.4(ATP6V1E1):c.277-86G>A rs3747023 0.35639
NM_001696.4(ATP6V1E1):c.209+139T>C rs3747024 0.35614
NM_001696.4(ATP6V1E1):c.435+124T>C rs5992075 0.35507
NM_001696.4(ATP6V1E1):c.436-102C>A rs2072555 0.25548
NM_001696.4(ATP6V1E1):c.99+266C>T rs9604775 0.18579
NM_001696.4(ATP6V1E1):c.530+130A>G rs57754481 0.15585
NM_001696.4(ATP6V1E1):c.366+267A>G rs714504 0.12686
NM_001696.4(ATP6V1E1):c.435+191T>C rs8137221 0.12663
NM_001696.4(ATP6V1E1):c.530+228G>A rs74276486 0.12610
NM_001696.4(ATP6V1E1):c.531-258A>G rs5747247 0.12597
NM_001696.4(ATP6V1E1):c.367-306G>A rs5747251 0.12569
NM_001696.4(ATP6V1E1):c.*177A>G rs3532 0.12559
NM_001696.4(ATP6V1E1):c.100-113C>T rs17809319 0.11437
NM_001696.4(ATP6V1E1):c.435+85T>G rs5992076 0.11109
NM_001696.4(ATP6V1E1):c.436-82C>T rs2287228 0.10138
NM_001696.4(ATP6V1E1):c.210-90G>C rs5992080 0.09732
NM_001696.4(ATP6V1E1):c.530+237C>T rs73391485 0.08001
NM_001696.4(ATP6V1E1):c.33+269C>G rs737994 0.07955
NM_001696.4(ATP6V1E1):c.209+98G>A rs7284200 0.07640
NM_001696.4(ATP6V1E1):c.619-184A>G rs144179905 0.05596
NM_001696.4(ATP6V1E1):c.366+121C>A rs718296 0.04833
NM_001696.4(ATP6V1E1):c.367-138C>T rs60335616 0.04828
NM_001696.4(ATP6V1E1):c.*23C>T rs2229563 0.04563
NM_001696.4(ATP6V1E1):c.618+15A>G rs76360481 0.04557
NM_001696.4(ATP6V1E1):c.579C>T (p.Ser193=) rs76511316 0.04550
NM_001696.4(ATP6V1E1):c.531-61G>A rs116576310 0.03389
NM_001696.4(ATP6V1E1):c.276+139C>G rs79852314 0.01690
NM_001696.4(ATP6V1E1):c.436-39G>T rs74795219 0.01612
NM_001696.4(ATP6V1E1):c.237G>A (p.Ala79=) rs78475231 0.00778
NM_001696.4(ATP6V1E1):c.528C>T (p.Asp176=) rs73391487 0.00407
NM_001696.4(ATP6V1E1):c.34-19A>C rs183234020 0.00214
NM_001696.4(ATP6V1E1):c.245A>G (p.Lys82Arg) rs147042004 0.00031
NM_001696.4(ATP6V1E1):c.192T>A (p.Ile64=) rs138309443 0.00016
NM_001696.4(ATP6V1E1):c.100-292C>T rs2401158
NM_001696.4(ATP6V1E1):c.209+76A>G rs3747025
NM_001696.4(ATP6V1E1):c.277-54= rs5747254
NM_001696.4(ATP6V1E1):c.34-101G>A rs737995
NM_001696.4(ATP6V1E1):c.34-9del rs771353650
NM_001696.4(ATP6V1E1):c.435+94dup rs372976189
NM_001696.4(ATP6V1E1):c.436-296A>G rs5992073
NM_001696.4(ATP6V1E1):c.531-14dup rs35683311
NM_001696.4(ATP6V1E1):c.531-5del rs35683311
NM_001696.4(ATP6V1E1):c.531-6_531-5del
NM_001696.4(ATP6V1E1):c.619-65del rs150344720
NM_001696.4(ATP6V1E1):c.619-84_619-81dup rs150344720
NM_001696.4(ATP6V1E1):c.99+215G>C rs4819615

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