List of variants studied for peroxisomal disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)	rs34154371	0.01899
NM_001752.4(CAT):c.903+5G>T	rs147912187	0.00169
NM_001098537.3(PNPLA7):c.1889+1G>A	rs767961762	0.00004
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)	rs754024503	0.00001
NM_000030.3(AGXT):c.33dup (p.Lys12fs)	rs180177201
NM_000033.4(ABCD1):c.125del (p.Pro42fs)	rs2148388674
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000466.3(PEX1):c.1099del (p.Gln367fs)	rs1403870448
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.140_147+36del
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr)	rs2037467316
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile)	rs2041587108

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