ClinVar Miner

List of variants in gene HADHA, HADHB studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NC_000002.12:g.26244826T>C rs749979964 0.00249
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NC_000002.11:g.(?_26414119)_(26502265_?)del
NC_000002.11:g.(?_26426911)_(26512821_?)del

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