ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign for aniridia

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=) rs372956285 0.00001
NM_001368894.2(PAX6):c.1226-13C>T rs2134386969
NM_001368894.2(PAX6):c.1226-4C>G rs11031477
NM_001368894.2(PAX6):c.1226-7C>T
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=) rs776244636
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*4251G>A rs3026396

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