ClinVar Miner

List of variants in gene PAX6 reported as benign

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.10+300T>C rs2440246 1.00000
NM_001368894.2(PAX6):c.1075-174G>A rs2071754 0.68628
NM_001368894.2(PAX6):c.725-234A>T rs2239789 0.44333
NM_001368894.2(PAX6):c.1074+107C>T rs3026384 0.22891
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001368894.2(PAX6):c.-128-204G>A rs3026361 0.05132
NM_001368894.2(PAX6):c.11-195G>A rs3026371 0.05128
NM_001368894.2(PAX6):c.11-41T>C rs73477673 0.03878
NM_001368894.2(PAX6):c.141+231C>T rs3026372 0.03824
NM_001368894.2(PAX6):c.958+33T>A rs73477665 0.02969
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.142-148A>T rs11031479 0.02537
NM_001368894.2(PAX6):c.-52+123T>C rs56281044 0.01288
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.399+38G>A rs192353192 0.00453
NM_001368894.2(PAX6):c.1075-275A>C rs3026392 0.00180
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001368894.2(PAX6):c.141+55G>A rs571151963 0.00101
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001368894.2(PAX6):c.978C>T (p.Gly326=) rs115833025 0.00035
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln) rs200015827 0.00003
NM_001368894.2(PAX6):c.959-7C>T rs750093295 0.00003
NM_001368894.2(PAX6):c.243A>G (p.Arg81=) rs771974160 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.435T>C (p.Ala145=) rs374436481 0.00001
NM_001368894.2(PAX6):c.10+275C>G rs3026362
NM_001368894.2(PAX6):c.10+305C>T rs12278087
NM_001368894.2(PAX6):c.11-275dup rs5790867
NM_001368894.2(PAX6):c.11-753G>A
NM_001368894.2(PAX6):c.1225+43T>G rs3026393
NM_001368894.2(PAX6):c.141+318C>T rs3026373
NM_001368894.2(PAX6):c.142-52del rs145866071
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195
NM_001368894.2(PAX6):c.724+14del rs772158967
NM_001368894.2(PAX6):c.724+152TG[17] rs10525266
NM_001368894.2(PAX6):c.724+152TG[18] rs10525266
NM_001368894.2(PAX6):c.724+152TG[19] rs10525266
NM_001368894.2(PAX6):c.724+152TG[20] rs10525266
NM_001368894.2(PAX6):c.724+152TG[21] rs10525266

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