ClinVar Miner

List of variants studied for dilated cardiomyopathy by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (221):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999

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