ClinVar Miner

List of variants reported as pathogenic for Pierre Robin syndrome associated with collagen disease by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
COL11A1, 54-BP EX DEL, AS, AG-TG
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, 2-BP DEL, 4274GT
COL2A1, 28-BP DEL
COL2A1, IVS10AS, A-G, -2
COL2A1, IVS17, A-G, -2
COL2A1, IVS20, A-G, -2
COL2A1, IVS24, G-A, +5
COL2A1, IVS25DS, G-A, +1
COL2A1, IVS51DS, T-C, +2
NM_001844.5(COL2A1):c.1266+1del rs587776847
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001851.5(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995
NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_080679.2(COL11A2):c.2501_2527del (p.Glu834_Pro843delinsAla) rs864309477
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

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