ClinVar Miner

List of variants reported as uncertain significance for Specific granule deficiency

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001805.4(CEBPE):c.205C>T (p.Leu69Phe) rs146580935 0.00039
NM_001805.4(CEBPE):c.410G>A (p.Ser137Asn) rs140606768 0.00018
NM_001805.4(CEBPE):c.374G>A (p.Arg125Gln) rs61737804 0.00015
NM_001805.4(CEBPE):c.565C>T (p.Pro189Ser) rs376534358 0.00010
NM_001805.4(CEBPE):c.166G>A (p.Asp56Asn) rs371734898 0.00006
NM_001805.4(CEBPE):c.502G>A (p.Val168Ile) rs371549805 0.00006
NM_001805.4(CEBPE):c.55G>C (p.Glu19Gln) rs200738630 0.00006
NM_001805.4(CEBPE):c.308G>A (p.Gly103Glu) rs768417509 0.00005
NM_001805.4(CEBPE):c.680G>A (p.Arg227Lys) rs372651475 0.00005
NM_001805.4(CEBPE):c.22G>A (p.Glu8Lys) rs780505713 0.00004
NM_001805.4(CEBPE):c.404G>A (p.Arg135Gln) rs374190826 0.00004
NM_001805.4(CEBPE):c.130G>A (p.Ala44Thr) rs200138272 0.00003
NM_001805.4(CEBPE):c.188C>T (p.Ala63Val) rs561833547 0.00003
NM_001805.4(CEBPE):c.82G>A (p.Gly28Arg) rs771346092 0.00003
NM_001805.4(CEBPE):c.124C>A (p.Leu42Ile) rs762775546 0.00002
NM_001805.4(CEBPE):c.178G>A (p.Val60Met) rs1376968968 0.00002
NM_001805.4(CEBPE):c.217G>A (p.Gly73Arg) rs556715943 0.00002
NM_001805.4(CEBPE):c.223C>A (p.Pro75Thr) rs148458866 0.00002
NM_001805.4(CEBPE):c.227C>T (p.Ala76Val) rs1370239075 0.00002
NM_001805.4(CEBPE):c.286G>A (p.Gly96Ser) rs547817409 0.00002
NM_001805.4(CEBPE):c.335G>A (p.Ser112Asn) rs911185885 0.00002
NM_001805.4(CEBPE):c.487G>A (p.Gly163Ser) rs762842144 0.00002
NM_001805.4(CEBPE):c.581A>C (p.His194Pro) rs757986590 0.00002
NM_001805.4(CEBPE):c.586G>A (p.Gly196Ser) rs147384349 0.00002
NM_001805.4(CEBPE):c.794G>A (p.Arg265His) rs199967428 0.00002
NM_001805.4(CEBPE):c.100T>A (p.Cys34Ser) rs376629444 0.00001
NM_001805.4(CEBPE):c.119T>C (p.Ile40Thr) rs766049556 0.00001
NM_001805.4(CEBPE):c.145G>A (p.Gly49Arg) rs1301261529 0.00001
NM_001805.4(CEBPE):c.148G>C (p.Glu50Gln) rs993358781 0.00001
NM_001805.4(CEBPE):c.245C>T (p.Pro82Leu) rs372292172 0.00001
NM_001805.4(CEBPE):c.256C>T (p.Arg86Trp) rs773876082 0.00001
NM_001805.4(CEBPE):c.25T>G (p.Cys9Gly) rs942911403 0.00001
NM_001805.4(CEBPE):c.272C>G (p.Pro91Arg) rs1594808996 0.00001
NM_001805.4(CEBPE):c.292G>C (p.Asp98His) rs766386811 0.00001
NM_001805.4(CEBPE):c.373C>T (p.Arg125Trp) rs762474250 0.00001
NM_001805.4(CEBPE):c.38G>T (p.Gly13Val) rs779313226 0.00001
NM_001805.4(CEBPE):c.436G>T (p.Ala146Ser) rs769511891 0.00001
NM_001805.4(CEBPE):c.437C>T (p.Ala146Val) rs562211538 0.00001
NM_001805.4(CEBPE):c.469C>T (p.Pro157Ser) rs754418523 0.00001
NM_001805.4(CEBPE):c.484C>A (p.Pro162Thr) rs773794064 0.00001
NM_001805.4(CEBPE):c.517T>G (p.Leu173Val) rs766005459 0.00001
NM_001805.4(CEBPE):c.524C>G (p.Thr175Ser) rs758115639 0.00001
NM_001805.4(CEBPE):c.536C>T (p.Pro179Leu) rs778374638 0.00001
NM_001805.4(CEBPE):c.575C>T (p.Pro192Leu) rs755540311 0.00001
NM_001805.4(CEBPE):c.601A>G (p.Asn201Asp) rs201257734 0.00001
NM_001805.4(CEBPE):c.611G>C (p.Ser204Thr) rs760759078 0.00001
NM_001805.4(CEBPE):c.64G>A (p.Gly22Arg) rs766209986 0.00001
NM_001805.4(CEBPE):c.657C>T (p.Arg219=) rs2048515613 0.00001
NM_001805.4(CEBPE):c.721G>A (p.Ala241Thr) rs1310252768 0.00001
NM_001805.4(CEBPE):c.733C>T (p.Arg245Cys) rs761128015 0.00001
NM_001805.4(CEBPE):c.740G>A (p.Arg247His) rs1348809504 0.00001
NM_001805.4(CEBPE):c.772G>A (p.Asp258Asn) rs755654290 0.00001
NM_001805.4(CEBPE):c.820A>G (p.Ile274Val) rs1431194938 0.00001
NC_000014.8:g.(?_23242819)_(25103366_?)dup
NM_001805.4(CEBPE):c.103G>A (p.Glu35Lys)
NM_001805.4(CEBPE):c.105G>T (p.Glu35Asp) rs2140292273
NM_001805.4(CEBPE):c.10G>A (p.Gly4Arg) rs545367685
NM_001805.4(CEBPE):c.122A>G (p.Asp41Gly) rs2140292255
NM_001805.4(CEBPE):c.140A>C (p.Glu47Ala) rs2048524240
NM_001805.4(CEBPE):c.157C>T (p.Leu53Phe) rs1303931802
NM_001805.4(CEBPE):c.199A>G (p.Arg67Gly) rs750228203
NM_001805.4(CEBPE):c.208A>G (p.Lys70Glu)
NM_001805.4(CEBPE):c.20A>G (p.Tyr7Cys) rs2501821392
NM_001805.4(CEBPE):c.302C>T (p.Ala101Val) rs762247760
NM_001805.4(CEBPE):c.340G>A (p.Asp114Asn) rs2048522694
NM_001805.4(CEBPE):c.343C>A (p.Pro115Thr) rs1462971245
NM_001805.4(CEBPE):c.349G>A (p.Ala117Thr) rs1566773537
NM_001805.4(CEBPE):c.352G>T (p.Val118Leu) rs749080899
NM_001805.4(CEBPE):c.356C>A (p.Ala119Glu) rs752134859
NM_001805.4(CEBPE):c.356C>T (p.Ala119Val) rs752134859
NM_001805.4(CEBPE):c.366G>T (p.Glu122Asp) rs2048522473
NM_001805.4(CEBPE):c.392G>A (p.Arg131Gln) rs1363301754
NM_001805.4(CEBPE):c.395_406del (p.Ala132_Arg135del) rs757777504
NM_001805.4(CEBPE):c.452_453delinsGC (p.Thr151Ser) rs2501819918
NM_001805.4(CEBPE):c.496C>G (p.Leu166Val) rs1273577069
NM_001805.4(CEBPE):c.499C>T (p.Arg167Cys) rs559886851
NM_001805.4(CEBPE):c.510+6A>G rs2048521107
NM_001805.4(CEBPE):c.511G>A (p.Ala171Thr)
NM_001805.4(CEBPE):c.512C>A (p.Ala171Asp) rs751972931
NM_001805.4(CEBPE):c.547C>T (p.Leu183Phe) rs775481612
NM_001805.4(CEBPE):c.551T>C (p.Leu184Pro) rs749540911
NM_001805.4(CEBPE):c.554A>C (p.Lys185Thr) rs2501818016
NM_001805.4(CEBPE):c.567_568dup (p.Ala190fs) rs2048516315
NM_001805.4(CEBPE):c.586G>T (p.Gly196Cys) rs147384349
NM_001805.4(CEBPE):c.587G>A (p.Gly196Asp) rs1664525350
NM_001805.4(CEBPE):c.637C>T (p.Arg213Cys) rs2140291181
NM_001805.4(CEBPE):c.638G>A (p.Arg213His) rs2048515737
NM_001805.4(CEBPE):c.662G>A (p.Ser221Asn) rs1566773059
NM_001805.4(CEBPE):c.71G>A (p.Arg24Gln) rs747068325
NM_001805.4(CEBPE):c.778C>T (p.Leu260Phe) rs1420638415
NM_001805.4(CEBPE):c.779T>G (p.Leu260Arg) rs2501817351
NM_001805.4(CEBPE):c.823A>T (p.Lys275Ter)
NM_001805.4(CEBPE):c.9C>G (p.His3Gln) rs769903476

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