ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 6 by Illumina Laboratory Services, Illumina

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.*127C>G rs189787963 0.00397
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.*964G>A rs75512992 0.00181
NM_016203.4(PRKAG2):c.*614A>T rs567058170 0.00160
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.*156A>G rs28763997 0.00062
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.*135T>C rs184932311 0.00041
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.*365G>A rs886062098 0.00034
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.-249G>C rs534059998 0.00016
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016203.4(PRKAG2):c.-481G>A rs373697168 0.00012
NM_016203.4(PRKAG2):c.*1030T>G rs867502251 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.*55C>T rs371637024 0.00006
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.*1043G>A rs1207057314 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.*1012T>G rs886062095 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.-16A>G rs200468798 0.00003
NM_016203.4(PRKAG2):c.*419C>T rs951231157 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) rs139653890 0.00001
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) rs199863116 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) rs730880975 0.00001
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) rs756923555 0.00001
NM_016203.4(PRKAG2):c.*1021T>G rs199973452
NM_016203.4(PRKAG2):c.*256T>G rs1803889003
NM_016203.4(PRKAG2):c.*398C>T rs1232386894
NM_016203.4(PRKAG2):c.*450T>C rs1803859194
NM_016203.4(PRKAG2):c.*471T>C rs1803856114
NM_016203.4(PRKAG2):c.*612G>A rs371404960
NM_016203.4(PRKAG2):c.*771C>T rs1803806831
NM_016203.4(PRKAG2):c.*835T>C rs886062097
NM_016203.4(PRKAG2):c.*887G>A rs886062096
NM_016203.4(PRKAG2):c.*953T>A rs552411344
NM_016203.4(PRKAG2):c.-252C>T rs546312513
NM_016203.4(PRKAG2):c.-262C>T rs886062103
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala) rs2076656944
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) rs1268890991
NM_016203.4(PRKAG2):c.947-7G>A rs1554464198

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