ClinVar Miner

List of variants in gene DGUOK, LOC129934096 studied for congenital structural myopathy

Included ClinVar conditions (176):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)

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