ClinVar Miner

List of variants in gene PLA2G6 reported as likely pathogenic by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001

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