ClinVar Miner

List of variants in gene CCDC40, GAA, LOC130061897 studied for disorder of glycogen metabolism

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_000152.5(GAA):c.-325C>T rs1402918119

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