ClinVar Miner

List of variants in gene HDAC6 studied for X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Included ClinVar conditions (1):
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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006044.4(HDAC6):c.2187+20G>A rs2075837 0.22804
NM_006044.4(HDAC6):c.513C>T (p.Tyr171=) rs73209760 0.00210
NM_006044.4(HDAC6):c.2786T>C (p.Ile929Thr) rs143030911 0.00019
NM_006044.4(HDAC6):c.*282A>T rs398122390
NM_006044.4(HDAC6):c.1894C>T (p.His632Tyr)
NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile) rs1557028459
NM_006044.4(HDAC6):c.3190G>A (p.Gly1064Arg) rs2063122125

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