ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262

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