ClinVar Miner

List of variants in gene PAX6 studied for 46,XY disorder of sex development

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
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.909T>C (p.Ser303=) rs202154006 0.00004
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro) rs1167005463
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222

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