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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)	rs183103554	0.00039
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser)	rs375390710	0.00004
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)	rs779993355	0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)	rs907643541	0.00001
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)	rs762905275	0.00001
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)	rs771307472	0.00001
NM_000152.5(GAA):c.224C>G (p.Pro75Arg)	rs1555598675
NM_000162.5(GCK):c.255G>T (p.Arg85Ser)	rs1554335758
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)	rs1554334872
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)	rs1554404073
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)	rs772983040
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)	rs146552221
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro)	rs1588768370
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr)	rs1554875257

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