ClinVar Miner

List of variants in gene PAX9 reported by Ambry Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu) rs200733091 0.00011
NM_001372076.1(PAX9):c.750G>T (p.Glu250Asp) rs200344655 0.00006
NM_001372076.1(PAX9):c.188C>G (p.Thr63Arg) rs749743496 0.00001
NM_001372076.1(PAX9):c.1007T>C (p.Val336Ala)
NM_001372076.1(PAX9):c.1013C>T (p.Ala338Val)
NM_001372076.1(PAX9):c.217G>T (p.Gly73Cys) rs1555316711
NM_001372076.1(PAX9):c.22G>A (p.Val8Met)
NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu)
NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs) rs1555316743
NM_001372076.1(PAX9):c.709G>T (p.Ala237Ser)
NM_001372076.1(PAX9):c.775C>T (p.Pro259Ser)
NM_001372076.1(PAX9):c.930G>T (p.Leu310Phe)

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