List of variants studied for Arrhythmogenic right ventricular dysplasia 1 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)	rs11570076	0.01409
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)	rs193922639	0.00158
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	rs193922377	0.00016
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	rs370057029	0.00007
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)	rs372288373	0.00005
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)	rs368299411	0.00003
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)	rs1060501183	0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)	rs772744115	0.00001
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)	rs1444213066
NM_001005242.3(PKP2):c.2358-2A>G	rs1956082474
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)	rs794728739
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])	rs587780487
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)	rs766450773
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs)	rs1452512048

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