ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 10 by Illumina Laboratory Services, Illumina

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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_001943.5(DSG2):c.*1866T>C rs1047433 0.48313
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.47991
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.23032
NM_001943.5(DSG2):c.*565A>G rs11542765 0.21489
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001943.5(DSG2):c.*1339G>A rs9304101 0.13286
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02115
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01156
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01020
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_001943.5(DSG2):c.*677T>C rs113622947 0.00882
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001943.5(DSG2):c.*1844A>G rs16962096 0.00700
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00654
NM_001943.4(DSG2):c.-94G>C rs149048465 0.00607
NM_001943.5(DSG2):c.*1385C>T rs116439025 0.00578
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_001943.5(DSG2):c.*705G>A rs57112788 0.00298
NM_001943.5(DSG2):c.*1674G>A rs115630812 0.00240
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00230
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001943.5(DSG2):c.*504A>G rs139121154 0.00214
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_001943.5(DSG2):c.*990G>A rs553112355 0.00195
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00190
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_001943.4(DSG2):c.-79C>G rs552915392 0.00179
NM_001943.5(DSG2):c.*1399A>G rs117440439 0.00177
NM_001943.5(DSG2):c.-55G>C rs551539015 0.00171
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00159
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001943.5(DSG2):c.*1530T>C rs15668 0.00126
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00122
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00107
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00066
NM_001943.5(DSG2):c.*1071T>C rs183684674 0.00063
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00057
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00055
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001943.5(DSG2):c.*211A>G rs555912274 0.00039
NM_001943.5(DSG2):c.*889G>A rs886053729 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.*737C>G rs767211637 0.00035
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00033
NM_001943.5(DSG2):c.*1831T>C rs546796254 0.00031
NM_001943.5(DSG2):c.*300G>A rs747504155 0.00025
NM_001943.5(DSG2):c.*739G>A rs775624337 0.00019
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00018
NM_001943.5(DSG2):c.*608G>A rs886053724 0.00017
NM_001943.5(DSG2):c.*1263C>T rs192887371 0.00015
NM_001943.5(DSG2):c.*1803A>G rs147816088 0.00015
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00015
NM_001943.5(DSG2):c.*422C>T rs886053722 0.00014
NM_001943.5(DSG2):c.*696G>A rs773284085 0.00014
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_001943.5(DSG2):c.*1596T>C rs549396103 0.00012
NM_001943.5(DSG2):c.*847T>C rs930886277 0.00012
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.*425T>C rs192049697 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00008
NM_001943.5(DSG2):c.*392A>G rs886053721 0.00007
NM_001943.5(DSG2):c.*289A>G rs541237335 0.00006
NM_001943.5(DSG2):c.*859G>A rs886053727 0.00005
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) rs764925318 0.00005
NM_001943.5(DSG2):c.*1136G>A rs764985189 0.00004
NM_001943.5(DSG2):c.*806C>T rs961192815 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001943.4(DSG2):c.-156G>A rs886053707 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.*1471T>C rs574977992 0.00002
NM_001943.5(DSG2):c.*238T>G rs555035341 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) rs774113529 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_001943.4(DSG2):c.-144G>A rs1478833586 0.00001
NM_001943.4(DSG2):c.-178G>A rs1367107745 0.00001
NM_001943.5(DSG2):c.*159G>A rs886053719 0.00001
NM_001943.5(DSG2):c.*1652T>G rs886053736 0.00001
NM_001943.5(DSG2):c.*666G>T rs1475926412 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00001
NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter) rs546127303 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714 0.00001
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045 0.00001
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422 0.00001
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) rs749897373 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.447T>C (p.Val149=) rs1389484271 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile) rs751490881 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_001943.4(DSG2):c.-135A>T rs886053709
NM_001943.5(DSG2):c.*1264G>C rs115099821
NM_001943.5(DSG2):c.*1982A>C rs1302003146
NM_001943.5(DSG2):c.*755G>A rs886053725
NM_001943.5(DSG2):c.*788G>C rs886053726
NM_001943.5(DSG2):c.*96C>G rs886053718
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val) rs886053713
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile) rs2073222443
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg) rs1023084089
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys) rs972736246
NM_001943.5(DSG2):c.182G>T (p.Gly61Val) rs779224655
NM_001943.5(DSG2):c.1863C>G (p.Ala621=) rs768150787
NM_001943.5(DSG2):c.1879+8T>C rs2073249877
NM_001943.5(DSG2):c.1932T>C (p.Phe644=) rs2073265410
NM_001943.5(DSG2):c.2019G>C (p.Leu673=) rs886053715
NM_001943.5(DSG2):c.2643C>A (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.828+13C>A rs180926981
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg) rs370140174

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