List of variants in gene SCP2 studied for peroxisomal disease

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly)	rs201094447	0.00048
NM_002979.5(SCP2):c.825+1G>T	rs144132787	0.00009
NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys)	rs138573524	0.00008
NM_002979.5(SCP2):c.973+15T>G	rs544069554	0.00003
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)	rs369561869	0.00001
NM_002979.5(SCP2):c.572A>G (p.His191Arg)	rs372168791	0.00001
NM_002979.5(SCP2):c.550dup (p.Ile184fs)	rs1572119109
NM_002979.5(SCP2):c.588dup
NM_002979.5(SCP2):c.70-47del	rs143386725
NM_002979.5(SCP2):c.825G>T (p.Met275Ile)	rs1557580517
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser)	rs1342599570
NM_002979.5(SCP2):c.973+1G>A

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