List of variants reported as pathogenic for arrhythmogenic right ventricular cardiomyopathy by OMIM

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Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)	rs151010429	0.00010
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_003239.5(TGFB3):c.-30G>A	rs770828281	0.00004
NM_001005242.3(PKP2):c.2014-1G>C	rs193922674	0.00003
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)	rs121913012	0.00002
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	rs121913008	0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)	rs121913009	0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His)	rs782440692	0.00001
NM_003239.5(TGFB3):c.*495C>T	rs387906514	0.00001
NM_004415.4(DSP):c.939+1G>A	rs727504443	0.00001
NM_024422.6(DSC2):c.631-2A>G	rs397514042	0.00001
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)	rs121434421
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)	rs121918599
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	rs121918605
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	rs121918597
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)	rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)	rs121918601
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)	rs121918598
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)	rs568089577
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro)	rs965753331
NM_001943.5(DSG2):c.146G>A (p.Arg49His)	rs121913006
NM_001943.5(DSG2):c.1880-2A>G	rs397514038
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)	rs121913010
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)	rs121913011
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	rs121913007
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)	rs113994176
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)	rs797046139
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)	rs113994177
NM_002230.4(JUP):c.468G>A (p.Pro156=)	rs886037753
NM_002230.4(JUP):c.71C>A (p.Ser24Ter)	rs782460555
NM_004415.4(DSP):c.8501G>A (p.Arg2834His)	rs121912999
NM_004415.4(DSP):c.897C>G (p.Ser299Arg)	rs121912992
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)	rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp)	rs587777134
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	rs63750743
NM_024422.6(DSC2):c.1430del (p.Thr477fs)	rs397514041

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