ClinVar Miner

List of variants in gene XDH reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573 0.00224
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000379.4(XDH):c.882C>T (p.Pro294=) rs138246330 0.00195
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_000379.4(XDH):c.822G>A (p.Leu274=) rs113345553 0.00108
NM_000379.4(XDH):c.3052-4C>T rs370085305 0.00061
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr) rs45547640 0.00060
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026

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