ClinVar Miner

List of variants in gene COL9A3 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001853.4(COL9A3):c.113G>C (p.Gly38Ala) rs886044333
NM_001853.4(COL9A3):c.291G>C (p.Lys97Asn) rs946967931

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