ClinVar Miner

List of variants in gene COL9A2 studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00046
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_001852.4(COL9A2):c.694G>A (p.Gly232Ser) rs139013993 0.00008
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu) rs201772619 0.00007
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg) rs376722979 0.00006
NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln) rs751212530 0.00005
NM_001852.4(COL9A2):c.887C>T (p.Pro296Leu) rs749271511 0.00004
NM_001852.4(COL9A2):c.1736G>A (p.Arg579Gln) rs764023683 0.00003
NM_001852.4(COL9A2):c.398T>C (p.Ile133Thr) rs148136289 0.00003
NM_001852.4(COL9A2):c.1985G>A (p.Gly662Asp) rs747178798 0.00002
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr) rs1444649342 0.00001
NM_001852.4(COL9A2):c.1972G>A (p.Val658Met) rs773159349 0.00001
NM_001852.4(COL9A2):c.1399C>G (p.Gln467Glu)
NM_001852.4(COL9A2):c.151G>A (p.Gly51Ser)
NM_001852.4(COL9A2):c.1566C>A (p.Asp522Glu)
NM_001852.4(COL9A2):c.1636C>G (p.Arg546Gly) rs772278003
NM_001852.4(COL9A2):c.1664T>G (p.Met555Arg)
NM_001852.4(COL9A2):c.1763T>C (p.Val588Ala)
NM_001852.4(COL9A2):c.1771A>G (p.Ile591Val)
NM_001852.4(COL9A2):c.1832G>A (p.Arg611Gln)
NM_001852.4(COL9A2):c.305G>A (p.Gly102Asp)
NM_001852.4(COL9A2):c.367C>T (p.Pro123Ser)
NM_001852.4(COL9A2):c.433G>C (p.Asp145His)
NM_001852.4(COL9A2):c.476G>T (p.Arg159Leu)
NM_001852.4(COL9A2):c.64C>G (p.Leu22Val)
NM_001852.4(COL9A2):c.899C>T (p.Thr300Met)
NM_001852.4(COL9A2):c.971C>T (p.Ala324Val)

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