ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) rs1595846398
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) rs1291829047
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) rs58362413

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