ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) 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.395-8A>G rs386833426
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
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.770C>T (p.Thr257Ile) rs386833434
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833
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

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