ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with collagen disease by GenomeConnect, ClinGen

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260

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