List of variants reported as pathogenic for neurodegeneration with brain iron accumulation 2B by Fulgent Genetics, Fulgent Genetics

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Total variants: 16

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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.2222G>A (p.Arg741Gln)	rs121908686	0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	rs530348521	0.00004
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	rs587784353	0.00003
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	rs368497893	0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)	rs200075782	0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)	rs368008077	0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)	rs587784339	0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)	rs121908685	0.00001
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)	rs587784336
NM_003560.4(PLA2G6):c.1743-2A>G
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)	rs587784346
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)	rs587784361
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)	rs199935023

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