ClinVar Miner

List of variants in gene COL9A2 studied for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) rs535212284
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237
NM_001852.4(COL9A2):c.843_846+4del rs606231376

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