ClinVar Miner

List of variants in gene HDAC8 reported as pathogenic for Cornelia de Lange syndrome 5

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NC_000023.10:g.(?_71681834)_(71681968_?)del
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) rs397515418
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
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.131del (p.Ser43_Leu44insTer) rs587783663
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018486.3(HDAC8):c.164+2dup rs2147614590
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) rs797045611
NM_018486.3(HDAC8):c.295+2T>G rs2051897517
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) rs587779380
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) rs2148144488
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.522C>G (p.Tyr174Ter) rs146015223
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) rs397515416
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_018486.3(HDAC8):c.748del (p.Glu250fs)
NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) rs2147618568
NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs)
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) rs886041838
NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) rs2148045934
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) rs2148039184
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909

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