ClinVar Miner

List of variants studied for Knobloch syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_030582.3(COL18A1):c.4026+14delC rs3835286
NM_030582.4(COL18A1):c.*16G>A rs7499
NM_030582.4(COL18A1):c.120T>C (p.His40=) rs914230
NM_030582.4(COL18A1):c.2460T>C (p.Leu820=) rs11702425
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.3978G>A (p.Ala1326=) rs1050351

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