ClinVar Miner

List of variants reported as benign for Marshall syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001854.4(COL11A1):c.*105C>T rs1031820
NM_001854.4(COL11A1):c.*1105C>T rs12073619
NM_001854.4(COL11A1):c.*1183A>G rs9659030
NM_001854.4(COL11A1):c.*301A>G rs12731575
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1944+11T>C rs71664954
NM_001854.4(COL11A1):c.1998+4T>A rs12136577
NM_001854.4(COL11A1):c.2043+8G>A rs2622875
NM_001854.4(COL11A1):c.275-7T>C rs12136865
NM_001854.4(COL11A1):c.3168+15A>G rs1012281
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966

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