ClinVar Miner

List of variants reported as not provided for Pierre Robin syndrome associated with collagen disease by GenomeConnect, ClinGen

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255
NM_080680.3(COL11A2):c.798+67C>T rs772701006

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