List of variants in gene combination COL10A1, NT5DC1 reported as likely pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)	rs765628474	0.00003
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly)	rs111033546
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr)	rs2114278741
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)	rs2114278703
NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)	rs1779072705
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)	rs1582811858
NM_000493.4(COL10A1):c.1955T>G (p.Leu652Arg)	rs2114276916
NM_000493.4(COL10A1):c.1955_1956dup (p.Gln653fs)	rs1779066131
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)	rs111033552

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