ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 11 by Illumina Laboratory Services, Illumina

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005159.4(ACTC1):c.*1219C>T rs139559367 0.00312
NM_005159.4(ACTC1):c.*1893C>T rs185151197 0.00182
NM_005159.4(ACTC1):c.*1919G>A rs557782296 0.00093
NM_005159.4(ACTC1):c.*742C>G rs746732857 0.00056
NM_005159.4(ACTC1):c.*1303C>G rs764944789 0.00050
NM_005159.4(ACTC1):c.*1800C>T rs981648501 0.00028
NM_005159.5(ACTC1):c.*40G>A rs377546862 0.00028
NM_005159.4(ACTC1):c.*484C>T rs563713498 0.00027
NM_005159.4(ACTC1):c.-228C>A rs370499568 0.00021
NM_005159.4(ACTC1):c.*1471G>A rs886051067 0.00019
NM_005159.4(ACTC1):c.*737C>T rs868013105 0.00016
NM_005159.4(ACTC1):c.*2275C>T rs140004011 0.00013
NM_005159.4(ACTC1):c.*1749C>T rs920001464 0.00011
NM_005159.4(ACTC1):c.*1133G>T rs750686235 0.00009
NM_005159.4(ACTC1):c.*1802C>T rs563318028 0.00005
NM_005159.4(ACTC1):c.*1810C>T rs957061913 0.00004
NM_005159.4(ACTC1):c.*393G>T rs886051085 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.4(ACTC1):c.*1987G>A rs886051062 0.00003
NM_005159.4(ACTC1):c.*756C>T rs887032485 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00003
NM_005159.4(ACTC1):c.*584T>G rs999688273 0.00002
NM_005159.4(ACTC1):c.*927G>A rs934568426 0.00002
NM_005159.4(ACTC1):c.*2188T>C rs966275735 0.00001
NM_005159.4(ACTC1):c.*2206C>G rs886051060 0.00001
NM_005159.4(ACTC1):c.*2261A>G rs1482705391 0.00001
NM_005159.4(ACTC1):c.*590A>G rs942901934 0.00001
NM_005159.4(ACTC1):c.*679C>G rs886051078 0.00001
NM_005159.4(ACTC1):c.*865T>C rs886051073 0.00001
NM_005159.4(ACTC1):c.-192A>G rs1713628654 0.00001
NM_005159.5(ACTC1):c.*20T>A rs143407466 0.00001
NM_005159.5(ACTC1):c.809-12A>G rs587780846 0.00001
NM_005159.4(ACTC1):c.*1221A>T rs886051068
NM_005159.4(ACTC1):c.*1230C>T rs1891645041
NM_005159.4(ACTC1):c.*1262G>C rs189725849
NM_005159.4(ACTC1):c.*1378C>T rs1891640803
NM_005159.4(ACTC1):c.*1624G>T rs1891635659
NM_005159.4(ACTC1):c.*1732G>C rs750495564
NM_005159.4(ACTC1):c.*1774G>A rs756269270
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.4(ACTC1):c.*2179T>C rs1595758879
NM_005159.4(ACTC1):c.*2292C>T rs886051059
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.4(ACTC1):c.*619A>T rs886051082
NM_005159.4(ACTC1):c.*752C>A rs969975000
NM_005159.4(ACTC1):c.*777C>T rs886051074
NM_005159.4(ACTC1):c.-79G>A rs886051094
NM_005159.5(ACTC1):c.*35A>T rs748053539
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288

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