ClinVar Miner

List of variants in gene ATP6V1A reported as benign for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001690.4(ATP6V1A):c.426+69A>G rs2305546 0.37081
NM_001690.4(ATP6V1A):c.83-164A>G rs2305545 0.36094
NM_001690.4(ATP6V1A):c.880-244T>C rs6792447 0.34951
NM_001690.4(ATP6V1A):c.-13-81A>G rs12636577 0.33639
NM_001690.4(ATP6V1A):c.1227-210A>G rs116411090 0.01516
NM_001690.4(ATP6V1A):c.*4C>T rs80048233 0.00825
NM_001690.4(ATP6V1A):c.880-16T>C rs142893861 0.00473
NM_001690.4(ATP6V1A):c.879+27C>G rs146162142 0.00470
NM_001690.4(ATP6V1A):c.1227-37del rs3217358 0.00464
NM_001690.4(ATP6V1A):c.1470A>G (p.Ala490=) rs112729133 0.00391
NM_001690.4(ATP6V1A):c.1791C>A (p.Ile597=) rs149804500 0.00017
NM_001690.4(ATP6V1A):c.-13-202C>G rs12631232
NM_001690.4(ATP6V1A):c.1227-17del
NM_001690.4(ATP6V1A):c.1227-9del
NM_001690.4(ATP6V1A):c.1227-9dup
NM_001690.4(ATP6V1A):c.1260A>G (p.Pro420=)
NM_001690.4(ATP6V1A):c.1287T>C (p.Val429=)
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001690.4(ATP6V1A):c.1589+20T>C rs13321446
NM_001690.4(ATP6V1A):c.212-13C>T
NM_001690.4(ATP6V1A):c.339C>T (p.Thr113=)
NM_001690.4(ATP6V1A):c.416A>G (p.Lys139Arg)
NM_001690.4(ATP6V1A):c.565-161del rs63484660
NM_001690.4(ATP6V1A):c.880-69dup rs11385012
NM_001690.4(ATP6V1A):c.988+201C>G rs9863050

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