ClinVar Miner

List of variants in gene PLA2G5 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_000929.3(PLA2G5):c.157C>T (p.Arg53Ter) rs200954922 0.00004
NM_000929.3(PLA2G5):c.383del (p.Gln128fs) rs766454085 0.00002
NM_000929.3(PLA2G5):c.145G>A (p.Gly49Ser) rs387906796 0.00001
NM_000929.3(PLA2G5):c.133G>T (p.Gly45Cys) rs387906795
NM_000929.3(PLA2G5):c.185G>A (p.Trp62Ter) rs746408116
NM_000929.3(PLA2G5):c.280dup (p.Val94fs) rs1569848362

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