List of variants in gene HDAC8 reported as likely pathogenic for bone development disease

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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)_(71715138_?)dup
NC_000023.11:g.72456277_72483823del
NM_018486.3(HDAC8):c.1005+2T>C	rs2148039062
NM_018486.3(HDAC8):c.1006-2A>G	rs863224877
NM_018486.3(HDAC8):c.1011dup (p.Thr338fs)
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)	rs1555949010
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G	rs1131690790
NM_018486.3(HDAC8):c.164G>T (p.Arg55Met)
NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly)	rs2051867176
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly)	rs1057518727
NM_018486.3(HDAC8):c.551del (p.Gly184fs)	rs2148131678
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.720T>G (p.Tyr240Ter)	rs2048769063
NM_018486.3(HDAC8):c.737+1G>A	rs869312660
NM_018486.3(HDAC8):c.738-2A>G
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)	rs1602975455
NM_018486.3(HDAC8):c.770C>A (p.Pro257His)	rs797045613
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.799G>A (p.Asp267Asn)	rs2047965357
NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer)	rs1057516037
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg)	rs1602975122
NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg)
NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del)

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