ClinVar Miner

List of variants reported as uncertain significance for Arrhythmogenic right ventricular dysplasia 10 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_001943.5(DSG2):c.*990G>A rs553112355 0.00205
NM_001943.5(DSG2):c.*1399A>G rs117440439 0.00186
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.-55G>C rs551539015 0.00176
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.*1530T>C rs15668 0.00126
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
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.*737C>G rs767211637 0.00037
NM_001943.5(DSG2):c.*1831T>C rs546796254 0.00030
NM_001943.5(DSG2):c.*300G>A rs747504155 0.00025
NM_001943.5(DSG2):c.*608G>A rs886053724 0.00022
NM_001943.5(DSG2):c.*739G>A rs775624337 0.00019
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_001943.5(DSG2):c.*1263C>T rs192887371 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.*847T>C rs930886277 0.00012
NM_001943.5(DSG2):c.*1803A>G rs147816088 0.00011
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001943.5(DSG2):c.*425T>C rs192049697 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
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.2275G>A (p.Gly759Arg) rs765793636 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.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 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.2234C>T (p.Thr745Met) rs727504783 0.00003
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.*666G>T rs1475926412 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 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.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.*159G>A rs886053719
NM_001943.5(DSG2):c.*1652T>G rs886053736
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.1447G>A (p.Gly483Ser) rs886053714
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.2178T>C (p.Ser726=) rs749897373
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.968T>G (p.Ile323Arg) rs370140174

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