ClinVar Miner

List of variants reported for Arrhythmogenic right ventricular cardiomyopathy by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs) rs745882420 0.00006
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_001943.5(DSG2):c.1014+7A>G rs756562276 0.00002
NM_002230.4(JUP):c.*19G>A rs782012233 0.00002
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys) rs770911263 0.00002
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu) rs1649395606 0.00001
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser) rs1299197961 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.337-5T>G rs2137951361
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr) rs1374577335
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys) rs1299849256
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu) rs1278512393
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr) rs1194621692
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys) rs1057518518
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile) rs2148667252
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp) rs2148728656
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys) rs1683039143
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn) rs2148846582
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser) rs1284705376
NM_001943.5(DSG2):c.829-3C>A rs1295936995
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys) rs1555602080
NM_002230.4(JUP):c.708-3C>A rs1555604620
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln) rs1288935716
NM_004415.4(DSP):c.1627A>C (p.Asn543His) rs917602533
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) rs767885673
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val) rs2113699658
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_024334.3(TMEM43):c.584-4T>A rs2124990773
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.2251-3C>T rs2144784605
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773

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