ClinVar Miner

List of variants reported for Arrhythmogenic right ventricular cardiomyopathy by Blueprint Genetics

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433 0.00032
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His) rs183881662 0.00006
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu) rs766554531 0.00001
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln) rs766001488 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001943.5(DSG2):c.1014+1G>A rs587782939 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082 0.00001
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388 0.00001
NM_002230.4(JUP):c.1500A>T (p.Ala500=) rs869025443 0.00001
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) rs869025534 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro) rs730880180
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) rs750988872
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val) rs869025433
NM_004006.3(DMD):c.531-11_531-6del rs758404687
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) rs869025392
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_005477.3(HCN4):c.2261A>G (p.His754Arg) rs762856084
NM_020297.4(ABCC9):c.1884del (p.Phe628fs) rs869025348
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro) rs869025386
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter) rs869025543

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