ClinVar Miner

List of variants in gene LOC121331331, VPS13A studied for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033305.2(VPS13A):c.-181G>A rs117488726 0.10492
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691

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