ClinVar Miner

List of variants reported as likely pathogenic for Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001

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