ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular cardiomyopathy by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg) rs750510651 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His) rs1299759608 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly) rs1553453324
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.5306T>C (p.Val1769Ala) rs1553522244
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001927.4(DES):c.1315G>A (p.Glu439Lys) rs1114167347
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly) rs1598826780
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743

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