ClinVar Miner

List of variants reported as uncertain significance for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
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Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001844.4(COL2A1):c.1581+4_1581+7del
NM_001844.4(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.4(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001844.4(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001851.4(COL9A1):c.1634G>A (p.Arg545His) rs145698301
NM_001851.4(COL9A1):c.353G>A (p.Arg118Gln) rs143848379
NM_001851.4(COL9A1):c.626G>A (p.Arg209Lys) rs571441243
NM_001852.3(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414
NM_001852.3(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436
NM_001852.3(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956
NM_001852.3(COL9A2):c.458C>T (p.Pro153Leu) rs77937237
NM_001852.3:c.1242delC
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln)
NM_080629.2(COL11A1):c.3604T>C (p.Phe1202Leu) rs1377819809
NM_080629.2(COL11A1):c.781-397T>G rs1553239331
NM_080680.2(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609
NM_080680.2(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313
NM_080680.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080680.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080680.2(COL11A2):c.889G>A (p.Gly297Ser) rs139116571

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