ClinVar Miner

List of variants in gene AGXT reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457

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