ClinVar Miner

List of variants in gene combination LOC101927055, TTN reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly)
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=)
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611

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