List of variants reported as likely pathogenic for carbohydrate metabolism disease by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	rs386833988	0.00007
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	rs386833993	0.00005
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)	rs386833428	0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	rs386833431	0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	rs386833990	0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	rs386833992	0.00002
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)	rs386833427	0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)	rs386833434	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)	rs386833833	0.00001
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)	rs386833987	0.00001
NM_012434.5(SLC17A5):c.95-1G>C	rs386833995	0.00001
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)	rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)	rs386833418
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)	rs386833419
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)	rs386833421
NM_000027.4(AGA):c.336del (p.Ile112fs)	rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.369_373del (p.His124fs)	rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs)	rs386833425
NM_000027.4(AGA):c.44T>G (p.Leu15Arg)	rs386833429
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)	rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)	rs386833435
NM_002299.4(LCT):c.1692_1696del (p.Val565fs)	rs386833832
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)	rs386833834
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)	rs386833835
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)	rs386833836
NM_002299.4(LCT):c.5387del (p.Asp1796fs)	rs386833837
NM_002299.4(LCT):c.653_654del (p.Ser218fs)	rs386833838
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)	rs386833989
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)	rs386833991
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)	rs386833996

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