List of variants reported as likely pathogenic by Pediatric Metabolic Diseases, Hacettepe University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)	rs104894530
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000436.4(OXCT1):c.424G>C (p.Ala142Pro)	rs1561128268
NM_002225.5(IVD):c.883A>T (p.Met295Leu)	rs1595786853

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