ClinVar Miner

List of variants in gene HDAC8 studied for Cornelia de Lange syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NM_018486.3(HDAC8):c.-5G>T rs587783662
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) rs397515418
NM_018486.3(HDAC8):c.1006-2A>G rs863224877
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) rs1555949010
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) rs1556165162
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.130_133TTGA[1] (p.Ile45fs) rs797045610
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) rs587783663
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018486.3(HDAC8):c.24G>A (p.Ala8=) rs61736843
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg) rs1569412360
NM_018486.3(HDAC8):c.421_423del (p.Trp141del) rs587783664
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly) rs1057518727
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) rs397515416
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp) rs1556009247
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_018486.3(HDAC8):c.737+1G>A rs869312660
NM_018486.3(HDAC8):c.737+3A>G rs1569338413
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) rs797045613
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg) rs1569318004
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro) rs1569317995
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) rs1057516037
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909

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