ClinVar Miner

List of variants in gene COL9A2 reported as uncertain significance for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_001852.4(COL9A2):c.*67A>G rs553963794 0.00051
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_001852.4(COL9A2):c.*370G>A rs548912125 0.00041
NM_001852.4(COL9A2):c.*443C>T rs531591616 0.00035
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.942G>A (p.Thr314=) rs144615318 0.00016
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His) rs375240237 0.00007
NM_001852.4(COL9A2):c.*230C>T rs1057515525 0.00006
NM_001852.4(COL9A2):c.*683G>A rs1057515565 0.00006
NM_001852.4(COL9A2):c.-27C>A rs375579300 0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 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.629C>T (p.Pro210Leu) rs199831035 0.00005
NM_001852.4(COL9A2):c.*369C>T rs773649280 0.00004
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg) rs887364532 0.00004
NM_001852.4(COL9A2):c.*386C>T rs932745561 0.00003
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=) rs142974512 0.00003
NM_001852.4(COL9A2):c.741C>A (p.Gly247=) rs747133313 0.00003
NM_001852.4(COL9A2):c.472-10C>A rs372390684 0.00002
NM_001852.4(COL9A2):c.*38G>A rs547105794 0.00001
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr) rs1444649342 0.00001
NM_001852.4(COL9A2):c.1609C>T (p.Leu537=) rs1057515453 0.00001
NM_001852.4(COL9A2):c.417+12C>T rs371485028 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser) rs1443766012 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.900G>C (p.Thr300=) rs752584833 0.00001
NM_001852.4(COL9A2):c.*322G>A rs1057515566
NM_001852.4(COL9A2):c.*405G>A rs1643903443
NM_001852.4(COL9A2):c.1009-2A>C rs2124065362
NM_001852.4(COL9A2):c.1054-15A>G rs774104069
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu) rs370682522
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1242dup (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser) rs2124049861
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys) rs1057515562
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His) rs901123053
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001852.4(COL9A2):c.300C>T (p.Val100=) rs1644152223
NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala) rs1057515526

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