ClinVar Miner

List of variants reported as likely benign for Arrhythmogenic right ventricular cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn) rs765517955 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484

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