ClinVar Miner

List of variants reported as pathogenic for autosomal dominant distal myopathy by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001135940.2(MYOT):c.-197+305C>T rs121908458
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778

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