ClinVar Miner

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

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001696.4(ATP6V1E1):c.34-206T>C rs45547040 0.02917
NM_001696.4(ATP6V1E1):c.531-161C>T rs75514826 0.01377
NM_001696.4(ATP6V1E1):c.209+58C>T rs73876477 0.00863
NM_001696.4(ATP6V1E1):c.619-30T>C rs73876475 0.00850
NM_001696.4(ATP6V1E1):c.619-245C>T rs1296818 0.00847
NM_001696.4(ATP6V1E1):c.619-209C>T rs146558925 0.00792
NM_001696.4(ATP6V1E1):c.237G>A (p.Ala79=) rs78475231 0.00778
NM_001696.4(ATP6V1E1):c.619-262G>A rs143950098 0.00750
NM_001696.4(ATP6V1E1):c.619-152G>A rs116828335 0.00748
NM_001696.4(ATP6V1E1):c.100-211G>A rs555278808 0.00714
NM_001696.4(ATP6V1E1):c.277-225T>G rs192672612 0.00615
NM_001696.4(ATP6V1E1):c.367-200C>A rs142085257 0.00565
NM_001696.4(ATP6V1E1):c.435+59C>G rs182783274 0.00498
NM_001696.4(ATP6V1E1):c.528C>T (p.Asp176=) rs73391487 0.00407
NM_001696.4(ATP6V1E1):c.435+178G>A rs558206153 0.00399
NM_001696.4(ATP6V1E1):c.435+144C>T rs545510398 0.00378
NM_001696.4(ATP6V1E1):c.277-32T>C rs114135569 0.00240
NM_001696.4(ATP6V1E1):c.34-19A>C rs183234020 0.00214
NM_001696.4(ATP6V1E1):c.366+11A>G rs199542694 0.00101
NM_001696.4(ATP6V1E1):c.367-12del rs375465370 0.00037
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.444G>C (p.Val148=) rs200844005 0.00014
NM_001696.4(ATP6V1E1):c.-35A>G rs200840817 0.00013
NM_001696.4(ATP6V1E1):c.435+9C>T rs201960147 0.00007
NM_001696.4(ATP6V1E1):c.531-4G>T rs1569200838 0.00007
NM_001696.4(ATP6V1E1):c.367-4C>T rs746489312 0.00002
NM_001696.4(ATP6V1E1):c.210-10C>T rs757172751 0.00001
NM_001696.4(ATP6V1E1):c.34-40A>G rs570507848 0.00001
NM_001696.4(ATP6V1E1):c.342G>A (p.Val114=) rs770127750 0.00001
NM_001696.4(ATP6V1E1):c.405T>C (p.Arg135=) rs771516354 0.00001
NM_001696.4(ATP6V1E1):c.78A>G (p.Lys26=) rs751970094 0.00001
NM_001696.4(ATP6V1E1):c.100-291_100-246del rs542233635
NM_001696.4(ATP6V1E1):c.100-8C>A
NM_001696.4(ATP6V1E1):c.132G>T (p.Arg44=)
NM_001696.4(ATP6V1E1):c.147A>G (p.Gln49=)
NM_001696.4(ATP6V1E1):c.209+18G>A
NM_001696.4(ATP6V1E1):c.209+20A>C
NM_001696.4(ATP6V1E1):c.209+20A>G
NM_001696.4(ATP6V1E1):c.210-15A>C
NM_001696.4(ATP6V1E1):c.243C>T (p.Leu81=)
NM_001696.4(ATP6V1E1):c.273C>T (p.Ile91=)
NM_001696.4(ATP6V1E1):c.276+18A>C
NM_001696.4(ATP6V1E1):c.276+7A>G
NM_001696.4(ATP6V1E1):c.282A>G (p.Leu94=)
NM_001696.4(ATP6V1E1):c.327A>G (p.Thr109=)
NM_001696.4(ATP6V1E1):c.366+14C>A
NM_001696.4(ATP6V1E1):c.366+17G>C
NM_001696.4(ATP6V1E1):c.366+20C>A
NM_001696.4(ATP6V1E1):c.366+8C>T
NM_001696.4(ATP6V1E1):c.367-20G>T
NM_001696.4(ATP6V1E1):c.408C>T (p.Cys136=)
NM_001696.4(ATP6V1E1):c.435+10T>A
NM_001696.4(ATP6V1E1):c.436-10A>G
NM_001696.4(ATP6V1E1):c.436-17G>A
NM_001696.4(ATP6V1E1):c.436-5del rs771519246
NM_001696.4(ATP6V1E1):c.444G>A (p.Val148=)
NM_001696.4(ATP6V1E1):c.465C>T (p.Tyr155=)
NM_001696.4(ATP6V1E1):c.477C>T (p.Thr159=)
NM_001696.4(ATP6V1E1):c.483C>T (p.Asn161=)
NM_001696.4(ATP6V1E1):c.501T>A (p.Ile167=)
NM_001696.4(ATP6V1E1):c.516C>T (p.Tyr172=)
NM_001696.4(ATP6V1E1):c.530+15T>C
NM_001696.4(ATP6V1E1):c.530+16G>A
NM_001696.4(ATP6V1E1):c.530+19G>A
NM_001696.4(ATP6V1E1):c.530+8G>A
NM_001696.4(ATP6V1E1):c.531-14dup rs35683311
NM_001696.4(ATP6V1E1):c.531-15C>T
NM_001696.4(ATP6V1E1):c.551A>G (p.Tyr184Cys)
NM_001696.4(ATP6V1E1):c.561T>C (p.Asp187=)
NM_001696.4(ATP6V1E1):c.618+16C>T
NM_001696.4(ATP6V1E1):c.619-15A>G
NM_001696.4(ATP6V1E1):c.619-84_619-83dup rs150344720
NM_001696.4(ATP6V1E1):c.619-84dup rs150344720
NM_001696.4(ATP6V1E1):c.619-9T>C
NM_001696.4(ATP6V1E1):c.657T>C (p.Asn219=)
NM_001696.4(ATP6V1E1):c.669G>A (p.Lys223=)
NM_001696.4(ATP6V1E1):c.9C>T (p.Leu3=)

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