ClinVar Miner

List of variants in gene ABCC9 reported as likely benign for Hypertrichotic osteochondrodysplasia

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Total variants: 10
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HGVS dbSNP
NM_005691.3(ABCC9):c.1165-6delT rs35857705
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_005691.3(ABCC9):c.2238-17del rs4148670
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_020297.3(ABCC9):c.1164+11A>G rs4762720
NM_020297.3(ABCC9):c.1296C= (p.Pro432=) rs10770865
NM_020297.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_020297.3(ABCC9):c.2199-11T>C rs697250
NM_020297.3(ABCC9):c.2424+9T>C rs11835804
NM_020297.3(ABCC9):c.574-5C>A rs3759236

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