ClinVar Miner

List of variants studied for dilated cardiomyopathy by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

Included ClinVar conditions (221):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del) rs1555338254
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578

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