ClinVar Miner

List of variants studied for cardiomyopathy by Human Genetics Bochum, Ruhr University Bochum

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 0.00008
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr) rs1293179210 0.00001
NM_000518.4(HBB):c.110C>A (p.Pro37His) rs33993004
NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) rs1289914935
NM_001458.5(FLNC):c.6023dup (p.Glu2009fs)
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) rs1563003159
NM_020774.4(MIB1):c.2250_2259del (p.Lys750fs)
NM_024334.3(TMEM43):c.201dup (p.Leu68fs)
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys) rs921802744
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_182914.3(SYNE2):c.14530G>T (p.Asp4844Tyr)
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)

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