ClinVar Miner

List of variants studied for skeletal muscle disorder by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Included ClinVar conditions (626):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_000257.4(MYH7):c.5655+5G>C rs1595070689
NM_001267550.2(TTN):c.69261G>A (p.Trp23087Ter)
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_170707.4(LMNA):c.513+45T>G rs878853220

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