List of variants reported as likely pathogenic for Neurodegeneration with brain iron accumulation 2B

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	rs149653983	0.00029
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.1506G>C (p.Lys502Asn)	rs1555988382	0.00002
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)	rs1403125636	0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)	rs535486098	0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)	rs1484455290	0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)	rs587784350	0.00001
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)	rs2145770192
NM_003560.4(PLA2G6):c.1742+2T>G	rs2087478227
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)	rs1555978219
NM_003560.4(PLA2G6):c.609+2T>C	rs2518055647
NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter)	rs2518041104
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)	rs797045889

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