ClinVar Miner

List of variants in gene combination COL10A1, NT5DC1 reported by OMIM

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.1771T>C (p.Cys591Arg) rs111033546
NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu) rs111033553
NM_000493.4(COL10A1):c.1790A>G (p.Tyr597Cys) rs111033554
NM_000493.4(COL10A1):c.1792T>G (p.Tyr598Asp) rs111033544
NM_000493.4(COL10A1):c.1798T>C (p.Ser600Pro) rs111033555
NM_000493.4(COL10A1):c.1832G>A (p.Trp611Ter) rs111033556
NM_000493.4(COL10A1):c.1841T>C (p.Leu614Pro) rs111033545
NM_000493.4(COL10A1):c.1857_1869del (p.Val621fs)
NM_000493.4(COL10A1):c.1858_1859del (p.Pro620fs) rs1562122372
NM_000493.4(COL10A1):c.1859del (p.Pro620fs) rs1562122372
NM_000493.4(COL10A1):c.1867_1876del (p.Tyr623fs) rs2114277685
NM_000493.4(COL10A1):c.1884C>G (p.Tyr628Ter) rs111033543
NM_000493.4(COL10A1):c.1896C>A (p.Tyr632Ter) rs111033548
NM_000493.4(COL10A1):c.1951T>C (p.Trp651Arg) rs111033549
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter) rs111033547
NM_000493.4(COL10A1):c.1989C>G (p.Tyr663Ter) rs2114276588
NM_000493.4(COL10A1):c.1994_1995del (p.Ser664_Ser665insTer) rs1779064401
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000493.4(COL10A1):c.52G>A (p.Gly18Arg) rs111033550
NM_000493.4(COL10A1):c.53G>A (p.Gly18Glu) rs111033551

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