List of variants studied for peroxisomal disease by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002979.5(SCP2):c.825+1G>T	rs144132787	0.00009
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs)	rs267608227
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)	rs1554372756
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.3579del (p.Asp1194fs)	rs1554366802
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)	rs1557047954
NM_001277062.2(MFF):c.375_376del (p.Glu127fs)	rs879255690
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)

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