ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with collagen disease by Center for Human Genetics, Inc

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_080629.2(COL11A1):c.781-397T>G rs1553239331

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