ClinVar Miner

List of variants in gene ATP6V0A2 reported as benign for congenital entropion

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660

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