ClinVar Miner

List of variants in gene combination MYOT, PKD2L2-DT reported as pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_001135940.2(MYOT):c.-197+305C>T rs121908458
NM_001135940.2(MYOT):c.-197+410G>T rs121908460
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.2(MYOT):c.17G>A (p.Arg6His) rs387906882

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