List of variants reported as likely pathogenic for carbohydrate metabolism disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)	rs200529020	0.00002
NM_000162.5(GCK):c.371A>T (p.Asp124Val)	rs1554335612
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)	rs1556014969
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)	rs886039877
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)	rs1555212749
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)	rs886039883
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)	rs886039873
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)	rs1555190969
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)	rs770588592
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)	rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)	rs1309307492
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr)	rs1060499693

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