List of variants reported as likely pathogenic for carbohydrate metabolism disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)	rs201428088	0.00029
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)	rs267607137	0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)	rs748436953	0.00003
NM_000528.4(MAN2B1):c.1645-1G>A	rs938576591	0.00001
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)	rs1569297427
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)	rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs)	rs1198074890
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys)	rs763006562
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)	rs1312031160
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)	rs1570623881
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)	rs760262127
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)	rs1570601007
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818

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