ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 7 by Illumina Laboratory Services, Illumina

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144 0.00398
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_001281740.3(FHOD3):c.1943T>C (p.Ile648Thr) rs144993045 0.00007
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000363.5(TNNI3):c.*35C>T rs375447438 0.00004
NM_000363.5(TNNI3):c.*44A>G rs1182120462 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.283-9C>T rs759922995 0.00002
NM_000363.5(TNNI3):c.-45C>T rs1242688089 0.00001
NM_000363.5(TNNI3):c.550-11C>T rs886054635 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser) rs760391305 0.00001
NM_000363.5(TNNI3):c.-98C>A rs12973773
NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) rs1190447904
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) rs2085712011
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) rs371092262

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