ClinVar Miner

List of variants in gene COL11A2 studied for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_080679.2(COL11A2):c.2501_2527del (p.Glu834_Pro843delinsAla) rs864309477
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) rs138045609
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter) rs121912950
NM_080679.2(COL11A2):c.4001G>A (p.Gly1334Glu) rs121912946
NM_080679.2(COL11A2):c.4071+1G>A rs750995470
NM_080679.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080679.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080679.2(COL11A2):c.798+1585G>A rs139116571

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