ClinVar Miner

List of variants reported as pathogenic for autosomal dominant distal myopathy by Baylor Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_133378.4(TTN):c.10361-1G>A rs869312099

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