ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy; Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00782
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00725
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00524
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00326
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00144
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016

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