ClinVar Miner

List of variants studied for neurodegeneration with brain iron accumulation 2B by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) rs1484455290 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.111_112dup (p.Val38fs)
NM_003560.4(PLA2G6):c.1536dup (p.Asp513Ter)

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