ClinVar Miner

List of variants in gene PAX6 studied for epithelial neoplasm

Included ClinVar conditions (286):
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Gene type:
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Total variants: 35
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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.985T>C (p.Leu329=) rs373147550 0.00024
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.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_000280.4:c.1267A>T
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg) rs759557055
NM_001368894.2(PAX6):c.400G>A (p.Val134Met)
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)
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.655C>T (p.Gln219Ter) rs121907924
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376

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