ClinVar Miner

List of variants reported as benign for familial isolated arrhythmogenic right ventricular dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_002230.4(JUP):c.-88A>G rs4796702 0.65910
NM_001005242.3(PKP2):c.*1431G>A rs1046150 0.62602
NM_001005242.3(PKP2):c.*1196G>A rs1046138 0.61624
NM_001005242.3(PKP2):c.*251C>G rs12612 0.61058
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001005242.3(PKP2):c.*812C>T rs9394 0.50975
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001943.5(DSG2):c.*1866T>C rs1047433 0.48313
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.48308
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_001035.3(RYR2):c.*1140A>G rs12594 0.28188
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_001943.5(DSG2):c.*565A>G rs11542765 0.21489
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001035.3(RYR2):c.*1307C>T rs16835904 0.16356
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001943.5(DSG2):c.*1339G>A rs9304101 0.13688
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001035.3(RYR2):c.4684-11C>T rs7546045 0.05719
NM_001005242.3(PKP2):c.*1271G>C rs12314796 0.05196
NM_001005242.3(PKP2):c.*1563G>T rs1046154 0.05190
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001005242.3(PKP2):c.-22C>G rs373925978 0.02916
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001035.3(RYR2):c.*56C>A rs74703306 0.01808
NM_001035.3(RYR2):c.*328C>T rs76286925 0.01804
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
NM_002230.4(JUP):c.*669C>T rs8074883 0.01622
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_001035.3(RYR2):c.*787C>A rs143228973 0.00997
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_001035.3(RYR2):c.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 0.00001
NM_001005242.3(PKP2):c.*944C>A rs6488090
NM_001035.3(RYR2):c.*129C>G rs16835891
NM_001035.3(RYR2):c.*714C>G rs12406863
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921

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