ClinVar Miner

List of variants in gene COL9A1 reported by Ambry Genetics

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu) rs149389568 0.00033
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.1282A>C (p.Met428Leu) rs146274972 0.00011
NM_001851.6(COL9A1):c.512A>G (p.Asn171Ser) rs201634520 0.00011
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met) rs141895443 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.1201A>G (p.Thr401Ala) rs138091050 0.00004
NM_001851.6(COL9A1):c.1682C>G (p.Pro561Arg) rs982761741 0.00004
NM_001851.6(COL9A1):c.2008G>A (p.Gly670Ser) rs778543412 0.00004
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr) rs759724577 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.2237T>G (p.Leu746Arg) rs1251807389 0.00002
NM_001851.6(COL9A1):c.2276A>T (p.Asp759Val) rs752385858 0.00002
NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val) rs768737537 0.00002
NM_001851.6(COL9A1):c.1258T>A (p.Ser420Thr) rs971866455 0.00001
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg) rs200194450 0.00001
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala) rs371407785 0.00001
NM_001851.6(COL9A1):c.340T>G (p.Leu114Val) rs769945785 0.00001
NM_001851.6(COL9A1):c.968G>T (p.Gly323Val) rs1005971460 0.00001
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val) rs764474418
NM_001851.6(COL9A1):c.1138C>A (p.Pro380Thr)
NM_001851.6(COL9A1):c.1273C>G (p.Leu425Val)
NM_001851.6(COL9A1):c.2302A>G (p.Arg768Gly) rs1191443057
NM_001851.6(COL9A1):c.2402C>A (p.Pro801His)
NM_001851.6(COL9A1):c.2510T>C (p.Leu837Ser)
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly) rs200829297
NM_001851.6(COL9A1):c.782C>G (p.Pro261Arg)
NM_001851.6(COL9A1):c.811C>T (p.Pro271Ser)
NM_001851.6(COL9A1):c.847C>G (p.Pro283Ala) rs1038310229

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