ClinVar Miner

List of variants in gene PXDN reported by Genome-Nilou Lab

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_012293.3(PXDN):c.4206+79G>A rs6742040 0.84241
NM_012293.3(PXDN):c.1567+67C>T rs12475392 0.75111
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_012293.3(PXDN):c.200+35C>T rs62116430 0.35690
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_012293.3(PXDN):c.4074-40A>G rs66753271 0.09593
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_012293.3(PXDN):c.1408+164T>C rs890055
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) rs1863135
NM_012293.3(PXDN):c.4206+73G>C rs6742039
NM_012293.3(PXDN):c.4206+81A>G rs6729142

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