ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001267550.2(TTN):c.55732+5G>C rs878854377
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468

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