ClinVar Miner

List of variants in gene CCDC40, GAA studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000152.5(GAA):c.-178G>A rs77514632
NM_000152.5(GAA):c.-260G>C rs2304849
NM_000152.5(GAA):c.-325C>T
NM_000152.5(GAA):c.-338C>G rs144639114
NM_000152.5(GAA):c.-75C>G
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_017950.4(CCDC40):c.*149T>C rs2304852
NM_017950.4(CCDC40):c.*15T>C rs2304853
NM_017950.4(CCDC40):c.*186A>C rs2304851
NM_017950.4(CCDC40):c.*265C>T rs74000393
NM_017950.4(CCDC40):c.*654A>C rs2289538
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854

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