List of variants reported as uncertain significance for disorder of glycolysis by Neuberg Centre For Genomic Medicine, NCGM

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)	rs759270956	0.00001
NM_000162.5(GCK):c.364-8del
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)
NM_000175.5(GPI):c.557A>G (p.Asn186Ser)
NM_000209.4(PDX1):c.282C>G (p.His94Gln)	rs2137502663
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
NM_000458.4(HNF1B):c.1370C>T (p.Pro457Leu)
NM_000458.4(HNF1B):c.282G>T (p.Glu94Asp)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)	rs2147545592
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)

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