ClinVar Miner

List of variants in gene PYROXD1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024854.5(PYROXD1):c.881-6T>G rs185019468 0.00444
NM_024854.5(PYROXD1):c.834G>C (p.Lys278Asn) rs147541231 0.00165
NM_024854.5(PYROXD1):c.365G>A (p.Cys122Tyr) rs140460108 0.00129
NM_024854.5(PYROXD1):c.1255-3T>C rs142612258 0.00009
NM_024854.5(PYROXD1):c.1440T>C (p.Asn480=)
NM_024854.5(PYROXD1):c.320A>G (p.Tyr107Cys) rs749371939
NM_024854.5(PYROXD1):c.816T>C (p.Phe272=)

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