ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Pars Genome Lab

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000158.4(GBE1):c.-102C>T
NM_000158.4(GBE1):c.-57G>A
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000404.4(GLB1):c.1233+8T>C rs13093698
NM_000404.4(GLB1):c.1233+91G>C
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000404.4(GLB1):c.458-11T>C rs34204221
NM_000404.4(GLB1):c.733+78A>G
NM_000404.4(GLB1):c.734-112T>C
NM_000404.4(GLB1):c.734-80G>A
NM_000404.4(GLB1):c.734-99G>T
NM_000404.4(GLB1):c.76-4426C>T
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.955+60A>G rs12632196
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000925.4(PDHB):c.267+42G>A
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.701-41G>A
NM_000925.4(PDHB):c.701-64G>T
NM_000925.4(PDHB):c.793-41G>A
NM_000925.4(PDHB):c.935-146G>C rs6445980
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752

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